#Format: diseaseId<tab>gene-symbol<tab>gene-id(entrez)<tab>HPO-ID<tab>HPO-term-name
OMIM:300419	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300419	AGTR2	186	HP:0001419	X-linked recessive inheritance
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: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	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	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	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:610093	RAX	30062	HP:0000568	Microphthalmia
OMIM:610093	RAX	30062	HP:0000007	Autosomal recessive inheritance
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: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	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	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	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: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
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: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	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	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	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	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: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	MYO6	4646	HP:0000360	Tinnitus
OMIM:616340	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:616340	MYO6	4646	HP:0000407	Sensorineural hearing impairment
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: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: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: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: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: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	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	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	SLITRK6	84189	HP:0001756	Vestibular hypofunction
OMIM:614944	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:614944	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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: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	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	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	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: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: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:615860	SEMA4A	64218	HP:0000548	Cone/cone-rod dystrophy
OMIM:611095	LINS1	55180	HP:0001249	Intellectual disability
OMIM:611095	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:611095	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:611095	TRAPPC9	83696	HP:0000007	Autosomal recessive 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: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: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:115800	CRYGD	1421	HP:0000518	Cataract
OMIM:115800	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:613980	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:613980	KCNE2	9992	HP:0004757	Paroxysmal atrial fibrillation
OMIM:268025	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:268025	EYS	346007	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	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:268025	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:268025	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:268025	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
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: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: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	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	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	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: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: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: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: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: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: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: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: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	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: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	EYS	346007	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	EYS	346007	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	PDE6G	5148	HP:0007843	Attenuation of retinal blood vessels
OMIM:616394	PDE6G	5148	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: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	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:614499	LINS1	55180	HP:0001249	Intellectual disability
OMIM:614499	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614499	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:614499	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
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: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:302045	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:302045	MYBPC3	4607	HP:0001417	X-linked inheritance
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
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:610019	CRYBB1	1414	HP:0000518	Cataract
OMIM:610019	CRYBB1	1414	HP:0000007	Autosomal recessive inheritance
OMIM:610019	CRYGD	1421	HP:0000518	Cataract
OMIM:610019	CRYGD	1421	HP:0000007	Autosomal recessive inheritance
OMIM:616249	KCNE2	9992	HP:0001662	Bradycardia
OMIM:616249	KCNE2	9992	HP:0001695	Cardiac arrest
OMIM:300849	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300849	AGTR2	186	HP:0001417	X-linked inheritance
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	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: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	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:609376	CRYBB1	1414	HP:0000007	Autosomal recessive inheritance
OMIM:609376	CRYBB1	1414	HP:0000518	Cataract
OMIM:609376	CRYGD	1421	HP:0000007	Autosomal recessive inheritance
OMIM:609376	CRYGD	1421	HP:0000518	Cataract
OMIM:602459	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:602459	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:602459	MYO6	4646	HP:0000365	Hearing impairment
OMIM:602459	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:613252	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:615092	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:615092	DTNA	1837	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	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: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: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: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:613307	CIB2	10518	HP:0000750	Delayed speech and language development
OMIM:613307	CIB2	10518	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	SLC26A5	375611	HP:0000750	Delayed speech and language development
OMIM:613307	SLC26A5	375611	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: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	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: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	MYO6	4646	HP:0000360	Tinnitus
OMIM:615654	MYO6	4646	HP:0000365	Hearing impairment
OMIM:615654	MYO6	4646	HP:0000006	Autosomal dominant inheritance
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	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:614422	CRYGD	1421	HP:0000519	Congenital cataract
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:611879	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:611879	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
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:605818	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:605818	CIB2	10518	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	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:605818	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:605818	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:605818	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614415	SAMHD1	25939	HP:0000006	Autosomal dominant inheritance
OMIM:614415	SAMHD1	25939	HP:0000992	Cutaneous photosensitivity
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:163500	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:163500	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:115700	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:115700	CRYBB1	1414	HP:0000519	Congenital cataract
OMIM:115700	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:115700	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:612712	EYS	346007	HP:0000556	Retinal dystrophy
OMIM:612712	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:612712	SAG	6295	HP:0000556	Retinal dystrophy
OMIM:612712	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:612712	PDE6G	5148	HP:0000556	Retinal dystrophy
OMIM:612712	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:612712	SEMA4A	64218	HP:0000556	Retinal dystrophy
OMIM:612712	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
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:616279	CRYBB1	1414	HP:0000523	Subcapsular cataract
OMIM:616279	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:616279	CRYGD	1421	HP:0000523	Subcapsular cataract
OMIM:616279	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:614521	CALR	811	HP:0000006	Autosomal dominant inheritance
OMIM:614521	CALR	811	HP:0001428	Somatic mutation
OMIM:614521	CALR	811	HP:0001894	Thrombocytosis
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	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	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	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: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:300210	AGTR2	186	HP:0001256	Intellectual disability, mild
OMIM:300210	AGTR2	186	HP:0001417	X-linked inheritance
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:300833	SRY	6736	HP:0001423	X-linked dominant inheritance
OMIM:300833	SRY	6736	HP:0012245	Sex reversal
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: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	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	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	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:300387	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300387	AGTR2	186	HP:0001417	X-linked inheritance
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	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: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: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: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: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: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	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: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: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	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	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	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:613575	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:613575	EYS	346007	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	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613575	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613575	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:613575	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
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: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: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	KCNE2	9992	HP:0004749	Atrial flutter
OMIM:613120	KCNE2	9992	HP:0012251	ST segment elevation
OMIM:613120	CACNA2D1	781	HP:0004749	Atrial flutter
OMIM:613120	CACNA2D1	781	HP:0012251	ST segment elevation
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:126700	CFI	3426	HP:0000006	Autosomal dominant inheritance
OMIM:126700	CFI	3426	HP:0000529	Progressive visual loss
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	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	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	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: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	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	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	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:300803	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300803	AGTR2	186	HP:0001417	X-linked inheritance
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: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: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: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:610878	SOX17	64321	HP:0000089	Renal hypoplasia
OMIM:610878	SOX17	64321	HP:0000006	Autosomal dominant inheritance
OMIM:610878	SOX17	64321	HP:0000076	Vesicoureteral reflux
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
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: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
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	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	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	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:603720	CIB2	10518	HP:0000006	Autosomal dominant inheritance
OMIM:603720	CIB2	10518	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	SLC26A5	375611	HP:0000006	Autosomal dominant inheritance
OMIM:603720	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:603720	SLITRK6	84189	HP:0000006	Autosomal dominant inheritance
OMIM:603720	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
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	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:115660	CRYGD	1421	HP:0000572	Visual loss
OMIM:115660	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
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: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: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
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:777	AGTR2	186	HP:0100543	Cognitive impairment
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	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: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: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	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	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: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:613122	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:612643	CCDC50	152137	HP:0008615	Adult onset sensorineural hearing impairment
OMIM:612643	CCDC50	152137	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:601371	CRYBB1	1414	HP:0100018	Nuclear cataract
OMIM:601371	CRYGD	1421	HP:0100018	Nuclear cataract
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: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: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	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	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	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: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: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:614614	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:614614	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:614614	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:614614	MYO6	4646	HP:0000365	Hearing impairment
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	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	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	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:614945	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614945	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614945	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614945	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614945	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614945	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614945	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614945	SLITRK6	84189	HP:0000365	Hearing impairment
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: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	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	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	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: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:600156	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:600156	EDN3	1908	HP:0000006	Autosomal dominant inheritance
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: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: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:613642	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:613642	MYBPC3	4607	HP:0000007	Autosomal recessive inheritance
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	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	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	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: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: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	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:614152	MYO6	4646	HP:0003676	Progressive
OMIM:614152	MYO6	4646	HP:0000006	Autosomal dominant inheritance
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:613958	PICK1	9463	HP:0000007	Autosomal recessive inheritance
OMIM:613958	PICK1	9463	HP:0012205	Globozoospermia
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	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
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
OMIM:611093	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:611093	LINS1	55180	HP:0001249	Intellectual disability
OMIM:611093	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:611093	TRAPPC9	83696	HP:0001249	Intellectual disability
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: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	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	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	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
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
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: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: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: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:600155	EDN3	1908	HP:0002251	Aganglionic megacolon
OMIM:193000	SOX17	64321	HP:0000076	Vesicoureteral reflux
OMIM:193000	SOX17	64321	HP:0000924	Abnormality of the skeletal system
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	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	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	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:616357	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:616357	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:616357	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:616357	MYO6	4646	HP:0000407	Sensorineural hearing impairment
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: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: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: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: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	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	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	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:612004	ANKRD26	22852	HP:0001873	Thrombocytopenia
OMIM:612004	ANKRD26	22852	HP:0000006	Autosomal dominant inheritance
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
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	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	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	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: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	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	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	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: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	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	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	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: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:600792	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:600792	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:600792	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:600792	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:600792	SLITRK6	84189	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: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	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	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	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: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	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: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: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: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	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	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	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: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: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:188550	NCOA4	8031	HP:0002895	Papillary thyroid carcinoma
OMIM:188550	NCOA4	8031	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	MYO6	4646	HP:0001730	Progressive hearing impairment
OMIM:606012	MYO6	4646	HP:0000006	Autosomal dominant inheritance
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	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:615916	MYBPC3	4607	HP:0004308	Ventricular arrhythmia
OMIM:615916	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
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: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: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: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:254450	CALR	811	HP:0005547	Myeloproliferative disorder
OMIM:254450	CALR	811	HP:0000006	Autosomal dominant inheritance
OMIM:254450	CALR	811	HP:0011974	Myelofibrosis
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	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: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: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	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: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:614617	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614617	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614617	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614617	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614617	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614617	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614617	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614617	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:300018	SRY	6736	HP:0012245	Sex reversal
OMIM:300018	SRY	6736	HP:0001417	X-linked inheritance
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: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	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: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: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
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	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
OMIM:607039	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:607039	CIB2	10518	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	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:607039	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:607039	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:607039	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:608224	MYO6	4646	HP:0000360	Tinnitus
OMIM:608224	MYO6	4646	HP:0000365	Hearing impairment
OMIM:615974	CIB2	10518	HP:0012715	Profound hearing impairment
OMIM:615974	CIB2	10518	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	SLC26A5	375611	HP:0012715	Profound hearing impairment
OMIM:615974	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:615974	SLITRK6	84189	HP:0012715	Profound hearing impairment
OMIM:615974	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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: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: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: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	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: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: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: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	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	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	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:612943	SEMA4A	64218	HP:0000980	Pallor
OMIM:612943	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
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: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: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:613453	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613453	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613453	SLC26A5	375611	HP:0001730	Progressive hearing impairment
OMIM:613453	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:613453	SLITRK6	84189	HP:0001730	Progressive hearing impairment
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: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: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: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: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: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: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: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: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: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
OMIM:616247	KCNE2	9992	HP:0001695	Cardiac arrest
OMIM:616247	KCNE2	9992	HP:0001657	Prolonged QT interval
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: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: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	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	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	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:613080	SRY	6736	HP:0012245	Sex reversal
OMIM:613080	SRY	6736	HP:0000006	Autosomal dominant inheritance
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: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: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	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:615770	KCNE2	9992	HP:0004749	Atrial flutter
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
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: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:615649	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:615649	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:615649	MYO6	4646	HP:0000365	Hearing impairment
OMIM:615649	MYO6	4646	HP:0000006	Autosomal dominant inheritance
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: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:614861	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:614861	CIB2	10518	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	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:614861	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614861	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:614861	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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:609706	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:609706	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:609706	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:609706	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:609706	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
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: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: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: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: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	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	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	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: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	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: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	CRYGD	1421	HP:0000519	Congenital cataract
OMIM:116400	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:116400	CRYGD	1421	HP:0100018	Nuclear cataract
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
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: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: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:415000	USP9Y	8287	HP:0001450	Y-linked inheritance
OMIM:415000	USP9Y	8287	HP:0000027	Azoospermia
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: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
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
OMIM:613123	CACNA2D1	781	HP:0004756	Ventricular tachycardia
OMIM:613123	CACNA2D1	781	HP:0012251	ST segment elevation
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: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:614431	CITED2	10370	HP:0000006	Autosomal dominant inheritance
OMIM:614431	CITED2	10370	HP:0011682	Perimembranous ventricular septal defect
OMIM:614249	LINS1	55180	HP:0001249	Intellectual disability
OMIM:614249	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614249	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:614249	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
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: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: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	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	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	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: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: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: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	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	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	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:614020	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614020	LINS1	55180	HP:0001249	Intellectual disability
OMIM:614020	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:614020	TRAPPC9	83696	HP:0001249	Intellectual disability
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: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	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:300355	AGTR2	186	HP:0001256	Intellectual disability, mild
OMIM:300355	AGTR2	186	HP:0001417	X-linked 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: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	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	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	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: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: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	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:603629	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:603629	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:603629	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:603629	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
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	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	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	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: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: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:605583	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:605583	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:605583	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:605583	MYO6	4646	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: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: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	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	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	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: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: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
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
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:616248	ZBTB42	100128927	HP:0000256	Macrocephaly
OMIM:616248	ZBTB42	100128927	HP:0001558	Decreased fetal movement
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: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: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	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	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	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: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: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: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: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	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: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: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: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:109543	POT1	25913	HP:0000006	Autosomal dominant inheritance
OMIM:109543	POT1	25913	HP:0005550	Chronic lymphatic leukemia
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	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: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: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:612877	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
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:608645	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:608645	CCDC50	152137	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: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	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: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: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: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	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: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: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	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
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
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: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: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: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: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:612269	GABRG2	2566	HP:0000006	Autosomal dominant inheritance
OMIM:612269	GABRG2	2566	HP:0002121	Absence seizures
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: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
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:614934	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614934	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614934	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614934	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614934	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614934	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614934	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:614934	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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: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: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
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:601412	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601412	CCDC50	152137	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: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: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: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:600884	MYBPC3	4607	HP:0004308	Ventricular arrhythmia
OMIM:600884	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:600884	MYBPC3	4607	HP:0006670	Impaired myocardial contractility
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: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: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	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	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	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:615235	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:615235	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:600132	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:600132	EYS	346007	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	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:600132	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:600132	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:600132	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
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	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	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	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: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:114480	TSG101	7251	HP:0000006	Autosomal dominant inheritance
OMIM:114480	TSG101	7251	HP:0003002	Breast carcinoma
OMIM:114480	TSG101	7251	HP:0001425	Heterogeneous
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	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	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	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
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: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: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: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	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	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	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: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: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: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	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: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: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: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:610265	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:610265	CIB2	10518	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	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:610265	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610265	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:610265	SLITRK6	84189	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: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	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	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	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: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	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	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	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:607841	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:607841	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:607841	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:607841	MYO6	4646	HP:0000407	Sensorineural hearing impairment
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	KCNE2	9992	HP:0001650	Aortic valve stenosis
OMIM:615377	KCNE2	9992	HP:0004757	Paroxysmal atrial fibrillation
OMIM:601544	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:601544	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601544	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:601544	MYO6	4646	HP:0000006	Autosomal dominant inheritance
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: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: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: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: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: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: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: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	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	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	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: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: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	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	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	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: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: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	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: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	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	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	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: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: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: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	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: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	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	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	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:614329	LINS1	55180	HP:0001249	Intellectual disability
OMIM:614329	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:614329	TRAPPC9	83696	HP:0001249	Intellectual disability
OMIM:614329	TRAPPC9	83696	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:614936	AAGAB	79719	HP:0000962	Hyperkeratosis
OMIM:614936	AAGAB	79719	HP:0000006	Autosomal dominant inheritance
OMIM:616500	SCO2	9997	HP:0001639	Hypertrophic cardiomyopathy
OMIM:607084	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:607084	CIB2	10518	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	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:607084	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:607084	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:607084	SLITRK6	84189	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	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:613865	MYO6	4646	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	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:613865	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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: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	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	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	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:608565	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:608565	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:608565	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:608565	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:608565	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
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:614049	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:614049	KCNE2	9992	HP:0005110	Atrial fibrillation
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	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: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: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: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: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: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:601543	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:601543	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601543	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:601543	MYO6	4646	HP:0000006	Autosomal dominant inheritance
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: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: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
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: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: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	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	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	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: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	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: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: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: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	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: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:601316	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601316	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:601316	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:601316	MYO6	4646	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: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: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: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: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	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: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:613286	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
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	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: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	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	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	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: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: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	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300498	AGTR2	186	HP:0000400	Macrotia
OMIM:300498	AGTR2	186	HP:0001419	X-linked recessive inheritance
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: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	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	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	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: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	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	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	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: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:300115	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:300115	AGTR2	186	HP:0001256	Intellectual disability, mild
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: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: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: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:614035	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614035	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614035	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614035	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614035	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614035	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614035	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:614035	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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
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
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	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	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	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: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:615429	CIB2	10518	HP:0000365	Hearing impairment
OMIM:615429	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:615429	MYO6	4646	HP:0000365	Hearing impairment
OMIM:615429	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:615429	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:615429	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:615429	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:615429	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:611090	LINS1	55180	HP:0000007	Autosomal recessive inheritance
OMIM:611090	LINS1	55180	HP:0001249	Intellectual disability
OMIM:611090	TRAPPC9	83696	HP:0000007	Autosomal recessive inheritance
OMIM:611090	TRAPPC9	83696	HP:0001249	Intellectual disability
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
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: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:613718	CIB2	10518	HP:0000365	Hearing impairment
OMIM:613718	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613718	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613718	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613718	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:613718	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613718	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:613718	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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: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	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	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	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: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	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	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	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:615565	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:615565	EYS	346007	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	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:615565	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:615565	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:615565	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613079	CIB2	10518	HP:0000365	Hearing impairment
OMIM:613079	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613079	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613079	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613079	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:613079	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613079	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:613079	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:607101	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:607101	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:607101	SLC26A5	375611	HP:0001730	Progressive hearing impairment
OMIM:607101	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:607101	SLITRK6	84189	HP:0001730	Progressive hearing impairment
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: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	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	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	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:611407	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:611407	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:608264	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:608264	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:608264	SLC26A5	375611	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: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:615396	DTNA	1837	HP:0001644	Dilated cardiomyopathy
OMIM:615396	DTNA	1837	HP:0000006	Autosomal dominant inheritance
OMIM:615396	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:615396	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
OMIM:300046	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300046	AGTR2	186	HP:0001419	X-linked recessive inheritance
OMIM:601868	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:601868	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:601868	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:601868	MYO6	4646	HP:0000006	Autosomal dominant inheritance
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: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: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: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
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
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: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: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:611544	CRYBB1	1414	HP:0100018	Nuclear cataract
OMIM:611544	CRYBB1	1414	HP:0000519	Congenital cataract
OMIM:611544	CRYBB1	1414	HP:0000007	Autosomal recessive inheritance
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
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	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	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	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:608219	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:608219	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:608219	SLC26A5	375611	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: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: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:610220	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:610220	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610220	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:610220	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:610220	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
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
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
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
OMIM:155700	POT1	25913	HP:0007716	Intraocular melanoma
OMIM:155700	POT1	25913	HP:0000006	Autosomal dominant inheritance
OMIM:611451	CIB2	10518	HP:0000365	Hearing impairment
OMIM:611451	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:611451	MYO6	4646	HP:0000365	Hearing impairment
OMIM:611451	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:611451	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:611451	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:611451	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:611451	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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: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: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	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	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	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
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
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: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: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
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
OMIM:155601	POT1	25913	HP:0012056	Cutaneous melanoma
OMIM:155601	POT1	25913	HP:0000006	Autosomal dominant inheritance
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	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: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	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	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	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: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
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
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	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: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	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	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	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:612645	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:612645	SLITRK6	84189	HP:0001751	Vestibular dysfunction
OMIM:613002	UNC93B1	81622	HP:0012302	Herpes simplex encephalitis
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	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	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	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:300622	C1GALT1C1	29071	HP:0001877	Abnormality of erythrocytes
OMIM:300622	C1GALT1C1	29071	HP:0002960	Autoimmunity
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: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: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	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:614173	TCTN1	79600	HP:0000007	Autosomal recessive inheritance
OMIM:614173	TCTN1	79600	HP:0001320	Cerebellar vermis hypoplasia
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: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	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: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: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: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: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: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: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	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
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:602092	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:602092	CIB2	10518	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	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:602092	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:602092	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:602092	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:607683	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:607683	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:607683	MYO6	4646	HP:0000365	Hearing impairment
OMIM:607683	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:610212	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:610212	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:610212	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:610212	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
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: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: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: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: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: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	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: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	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: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: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: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: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: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:613517	RAX	30062	HP:0000568	Microphthalmia
OMIM:613517	RAX	30062	HP:0000482	Microcornea
OMIM:613517	RAX	30062	HP:0000007	Autosomal recessive inheritance
OMIM:613825	C7	730	HP:0012308	Decreased serum complement C9
OMIM:300047	AGTR2	186	HP:0001249	Intellectual disability
OMIM:300047	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:143890	LDLR	3949	HP:0001114	Xanthelasma
OMIM:143890	LDLR	3949	HP:0001084	Corneal arcus
OMIM:143890	LDLR	3949	HP:0003124	Hypercholesterolemia
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: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: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: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:616044	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:616044	CCDC50	152137	HP:0001730	Progressive hearing impairment
OMIM:616044	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:616044	MYO6	4646	HP:0001730	Progressive hearing impairment
OMIM:613756	EYS	346007	HP:0000510	Rod-cone dystrophy
OMIM:613756	EYS	346007	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	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:613756	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:613756	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
OMIM:613756	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
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:610143	CIB2	10518	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	CIB2	10518	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	SLC26A5	375611	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:610143	SLC26A5	375611	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: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	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:607453	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:607453	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:607453	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:607453	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:614433	CITED2	10370	HP:0000006	Autosomal dominant inheritance
OMIM:614433	CITED2	10370	HP:0001631	Atria septal defect
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:607017	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:607017	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:607017	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:607017	MYO6	4646	HP:0000006	Autosomal dominant inheritance
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	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	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	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: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: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: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:609941	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:609941	CIB2	10518	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	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:609941	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:609941	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
OMIM:609941	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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: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: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: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	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:300114	AGTR2	186	HP:0001256	Intellectual disability, mild
OMIM:300114	AGTR2	186	HP:0001417	X-linked inheritance
OMIM:176807	ELAC2	60528	HP:0012125	Prostate cancer
OMIM:176807	ELAC2	60528	HP:0000006	Autosomal dominant inheritance
OMIM:611820	KCNE2	9992	HP:0001657	Prolonged QT interval
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: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: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	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: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	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	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	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: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: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:300147	ELAC2	60528	HP:0001417	X-linked inheritance
OMIM:300147	ELAC2	60528	HP:0012125	Prostate cancer
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: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: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:603688	ELAC2	60528	HP:0012125	Prostate cancer
OMIM:603688	ELAC2	60528	HP:0100006	Neoplasm of the central nervous system
OMIM:206800	RSPO4	343637	HP:0001798	Anonychia
OMIM:206800	RSPO4	343637	HP:0000007	Autosomal recessive inheritance
OMIM:612201	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
OMIM:612201	KCNE2	9992	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: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: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	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	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	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:115197	MYBPC3	4607	HP:0001639	Hypertrophic cardiomyopathy
OMIM:115197	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
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	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: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: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: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	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:600974	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:600974	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:600974	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:600974	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:600974	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
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	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: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:615188	LSS	4047	HP:0000519	Congenital cataract
OMIM:615188	LSS	4047	HP:0000006	Autosomal dominant inheritance
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	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:608641	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:608641	MYO6	4646	HP:0003676	Progressive
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: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: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	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	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	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
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
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: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	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	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	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: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:616509	LSS	4047	HP:0000519	Congenital cataract
OMIM:616509	LSS	4047	HP:0000572	Visual loss
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: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	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	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	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:616389	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:616389	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:615537	ADAM10	102	HP:0000006	Autosomal dominant inheritance
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: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: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	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
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
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	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: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: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: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	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	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	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: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:109720	TNPO3	23534	HP:0000006	Autosomal dominant inheritance
OMIM:109720	TNPO3	23534	HP:0002613	Biliary cirrhosis
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
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
OMIM:615134	POT1	25913	HP:0002861	Melanoma
OMIM:615134	POT1	25913	HP:0000006	Autosomal dominant inheritance
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: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:600971	CIB2	10518	HP:0000365	Hearing impairment
OMIM:600971	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:600971	MYO6	4646	HP:0000365	Hearing impairment
OMIM:600971	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:600971	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:600971	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:600971	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:600971	SLITRK6	84189	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: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:615540	CIB2	10518	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	CIB2	10518	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	SLC26A5	375611	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:615540	SLITRK6	84189	HP:0000408	Progressive sensorineural hearing impairment
OMIM:615540	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
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
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:615837	CIB2	10518	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	MYO6	4646	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	SLC26A5	375611	HP:0008619	Bilateral sensorineural hearing impairment
OMIM:615837	SLITRK6	84189	HP:0008619	Bilateral sensorineural hearing 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:613411	SAG	6295	HP:0000007	Autosomal recessive inheritance
OMIM:613411	SAG	6295	HP:0007642	Congenital stationary night blindness
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: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: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: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
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	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	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: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: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: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: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	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:606705	MYO6	4646	HP:0000360	Tinnitus
OMIM:606705	MYO6	4646	HP:0000006	Autosomal dominant inheritance
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:612644	CCDC50	152137	HP:0005101	High-frequency hearing impairment
OMIM:612644	CCDC50	152137	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: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	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	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	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	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
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
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: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
OMIM:608653	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:608653	CIB2	10518	HP:0000365	Hearing impairment
OMIM:608653	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:608653	MYO6	4646	HP:0000365	Hearing impairment
OMIM:608653	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:608653	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:608653	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:608653	SLITRK6	84189	HP:0000365	Hearing impairment
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:608908	SCO2	9997	HP:0000006	Autosomal dominant inheritance
OMIM:608908	SCO2	9997	HP:0000545	Myopia
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: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: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	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: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	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: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: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	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	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	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: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: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: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	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	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	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: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	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	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	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:600994	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:600994	CCDC50	152137	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: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: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: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:600105	EYS	346007	HP:0000007	Autosomal recessive inheritance
OMIM:600105	EYS	346007	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	PDE6G	5148	HP:0000007	Autosomal recessive inheritance
OMIM:600105	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:600105	SEMA4A	64218	HP:0000007	Autosomal recessive inheritance
OMIM:600105	SEMA4A	64218	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: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:604145	MYBPC3	4607	HP:0001644	Dilated cardiomyopathy
OMIM:604145	MYBPC3	4607	HP:0000006	Autosomal dominant inheritance
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: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	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: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
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:102530	PICK1	9463	HP:0000789	Infertility
OMIM:102530	PICK1	9463	HP:0012205	Globozoospermia
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: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: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: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	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	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	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: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:600316	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:600316	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:600316	SLC26A5	375611	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: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	MYO6	4646	HP:0003676	Progressive
OMIM:613558	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613558	MYO6	4646	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	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: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	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: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: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: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	TRAPPC9	83696	HP:0000252	Microcephaly
OMIM:616460	TRAPPC9	83696	HP:0000407	Sensorineural hearing impairment
OMIM:616460	TRAPPC9	83696	HP:0001249	Intellectual disability
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	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: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	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	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	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: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
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: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: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: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	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:613065	BCR	613	HP:0010982	Polygenic inheritance
OMIM:613065	BCR	613	HP:0006721	Acute lymphoblastic leukemia
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: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: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: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: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	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	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	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: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: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:116300	CRYBB1	1414	HP:0000006	Autosomal dominant inheritance
OMIM:116300	CRYBB1	1414	HP:0007657	Diffuse nuclear cataract
OMIM:116300	CRYGD	1421	HP:0000006	Autosomal dominant inheritance
OMIM:116300	CRYGD	1421	HP:0007657	Diffuse nuclear cataract
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: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: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	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	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	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: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: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	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:610154	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:610154	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610154	SLC26A5	375611	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: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: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: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
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: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: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	CIB2	10518	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	CIB2	10518	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	SLC26A5	375611	HP:0000399	Prelingual sensorineural hearing impairment
OMIM:608265	SLC26A5	375611	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:610153	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:610153	CIB2	10518	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	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:610153	SLC26A5	375611	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:616042	CIB2	10518	HP:0008568	Vestibular areflexia
OMIM:616042	CIB2	10518	HP:0000407	Sensorineural hearing impairment
OMIM:616042	MYO6	4646	HP:0008568	Vestibular areflexia
OMIM:616042	MYO6	4646	HP:0000407	Sensorineural hearing impairment
OMIM:616042	SLC26A5	375611	HP:0008568	Vestibular areflexia
OMIM:616042	SLC26A5	375611	HP:0000407	Sensorineural hearing impairment
OMIM:616042	SLITRK6	84189	HP:0008568	Vestibular areflexia
OMIM:616042	SLITRK6	84189	HP:0000407	Sensorineural hearing impairment
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	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	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	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: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	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	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	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: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: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: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	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	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	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:602247	LDLR	3949	HP:0003124	Hypercholesterolemia
OMIM:602247	LDLR	3949	HP:0000991	Xanthomatosis
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: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: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	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	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	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: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	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: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	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:613285	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613285	CIB2	10518	HP:0000365	Hearing impairment
OMIM:613285	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613285	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613285	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613285	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:613285	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:613285	SLITRK6	84189	HP:0000365	Hearing impairment
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: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	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	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:614414	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614414	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614414	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614414	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614414	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614414	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614414	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614414	SLITRK6	84189	HP:0000365	Hearing impairment
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: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: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: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: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	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	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	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: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: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	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	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	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: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	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:615277	CRYBB1	1414	HP:0000007	Autosomal recessive inheritance
OMIM:615277	CRYBB1	1414	HP:0007780	Cortical pulverulent cataract
OMIM:615277	CRYGD	1421	HP:0000007	Autosomal recessive inheritance
OMIM:615277	CRYGD	1421	HP:0007780	Cortical pulverulent cataract
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: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	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: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	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: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	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: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	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	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	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: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	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
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
OMIM:614050	KCNE2	9992	HP:0004757	Paroxysmal atrial fibrillation
OMIM:614050	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
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: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: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:613830	SAG	6295	HP:0007642	Congenital stationary night blindness
OMIM:613830	SAG	6295	HP:0000007	Autosomal recessive inheritance
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: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:610444	SAG	6295	HP:0000006	Autosomal dominant inheritance
OMIM:610444	SAG	6295	HP:0007642	Congenital stationary night blindness
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:613916	CIB2	10518	HP:0000365	Hearing impairment
OMIM:613916	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:613916	MYO6	4646	HP:0000365	Hearing impairment
OMIM:613916	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:613916	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:613916	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:613916	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:613916	SLITRK6	84189	HP:0000007	Autosomal recessive 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: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: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:611493	KCNE2	9992	HP:0005110	Atrial fibrillation
OMIM:611493	KCNE2	9992	HP:0000006	Autosomal dominant inheritance
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	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: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	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	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	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: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	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	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	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: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: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: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: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: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	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: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: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: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	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	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	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:601869	SLITRK6	84189	HP:0011463	Childhood onset
OMIM:601869	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:600652	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:600652	CCDC50	152137	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: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	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:616399	CACNA2D1	781	HP:0001962	Palpitations
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:613704	RAX	30062	HP:0000568	Microphthalmia
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: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	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	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	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: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: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: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: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: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	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	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	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: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:613705	SUMO1	7341	HP:0100333	Unilateral cleft lip
OMIM:613705	SUMO1	7341	HP:0100334	Unilateral cleft palate
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	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: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	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	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	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	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: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: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	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:604060	CIB2	10518	HP:0000365	Hearing impairment
OMIM:604060	MYO6	4646	HP:0000365	Hearing impairment
OMIM:604060	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:604060	SLITRK6	84189	HP:0000365	Hearing impairment
OMIM:600852	EYS	346007	HP:0000006	Autosomal dominant inheritance
OMIM:600852	EYS	346007	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	PDE6G	5148	HP:0000006	Autosomal dominant inheritance
OMIM:600852	PDE6G	5148	HP:0000510	Rod-cone dystrophy
OMIM:600852	SEMA4A	64218	HP:0000006	Autosomal dominant inheritance
OMIM:600852	SEMA4A	64218	HP:0000510	Rod-cone dystrophy
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	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:136630	DIP2B	57609	HP:0001249	Intellectual disability
OMIM:615629	CCDC50	152137	HP:0000365	Hearing impairment
OMIM:615629	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:615629	MYO6	4646	HP:0000365	Hearing impairment
OMIM:615629	MYO6	4646	HP:0000006	Autosomal dominant inheritance
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	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	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	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
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: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	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:614899	CIB2	10518	HP:0000007	Autosomal recessive inheritance
OMIM:614899	CIB2	10518	HP:0000365	Hearing impairment
OMIM:614899	MYO6	4646	HP:0000007	Autosomal recessive inheritance
OMIM:614899	MYO6	4646	HP:0000365	Hearing impairment
OMIM:614899	SLC26A5	375611	HP:0000007	Autosomal recessive inheritance
OMIM:614899	SLC26A5	375611	HP:0000365	Hearing impairment
OMIM:614899	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:614899	SLITRK6	84189	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	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	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	SLITRK6	84189	HP:0000007	Autosomal recessive inheritance
OMIM:610248	SLITRK6	84189	HP:0003593	Infantile onset
OMIM:610248	SLITRK6	84189	HP:0000365	Hearing impairment
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: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: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: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	CCDC50	152137	HP:0000006	Autosomal dominant inheritance
OMIM:606346	CCDC50	152137	HP:0000407	Sensorineural hearing impairment
OMIM:606346	MYO6	4646	HP:0000006	Autosomal dominant inheritance
OMIM:606346	MYO6	4646	HP:0000407	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	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: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	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:116100	LSS	4047	HP:0010922	Membranous cataract
OMIM:116100	LSS	4047	HP:0000006	Autosomal dominant inheritance
OMIM:309530	AGTR2	186	HP:0001419	X-linked recessive inheritance
OMIM:309530	AGTR2	186	HP:0001249	Intellectual disability
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: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
