#Format: entrez-gene-id<tab>entrez-gene-symbol<tab>HPO-Term-Name<tab>HPO-Term-ID
4512	COX1	Glycosuria	HP:0003076
4512	COX1	Areflexia	HP:0001284
4512	COX1	Cataract	HP:0000518
4512	COX1	Incoordination	HP:0002311
4512	COX1	Congenital cataract	HP:0000519
4512	COX1	Autosomal recessive inheritance	HP:0000007
4512	COX1	Headache	HP:0002315
4512	COX1	Episodic vomiting	HP:0002572
4512	COX1	Primary adrenal insufficiency	HP:0008207
4512	COX1	Abnormality of temperature regulation	HP:0004370
4512	COX1	Encephalopathy	HP:0001298
4512	COX1	Reduced consciousness/confusion	HP:0004372
4512	COX1	Generalized tonic-clonic seizures	HP:0002069
4512	COX1	Hemiplegia/hemiparesis	HP:0004374
4512	COX1	Abnormality of retinal pigmentation	HP:0007703
4512	COX1	Aminoaciduria	HP:0003355
4512	COX1	Migraine	HP:0002076
4512	COX1	Hypopigmented skin patches	HP:0001053
4512	COX1	Optic disc pallor	HP:0000543
4512	COX1	Reduced tendon reflexes	HP:0001315
4512	COX1	Hyperphosphaturia	HP:0003109
4512	COX1	Juvenile onset	HP:0003621
4512	COX1	Thyroiditis	HP:0100646
4512	COX1	Mask-like facies	HP:0000298
4512	COX1	Type I diabetes mellitus	HP:0100651
4512	COX1	Pulmonary hypertension	HP:0002092
4512	COX1	Muscle weakness	HP:0001324
4512	COX1	Respiratory insufficiency	HP:0002093
4512	COX1	EEG abnormality	HP:0002353
4512	COX1	Memory impairment	HP:0002354
4512	COX1	Diabetes mellitus	HP:0000819
4512	COX1	Dystonia	HP:0001332
4512	COX1	Hypothyroidism	HP:0000821
4512	COX1	Hypertension	HP:0000822
4512	COX1	Apnea	HP:0002104
4512	COX1	Lactic acidosis	HP:0003128
4512	COX1	Tremor	HP:0001337
4512	COX1	Exertional dyspnea	HP:0002875
4512	COX1	Visual loss	HP:0000572
4512	COX1	Hypertelorism	HP:0000316
4512	COX1	Hypoparathyroidism	HP:0000829
4512	COX1	Papilledema	HP:0001085
4512	COX1	Anterior hypopituitarism	HP:0000830
4512	COX1	Centrocecal scotoma	HP:0000576
4512	COX1	Respiratory difficulties	HP:0002880
4512	COX1	Hyperthyroidism	HP:0000836
4512	COX1	Pigmentary retinopathy	HP:0000580
4512	COX1	Recurrent myoglobinuria	HP:0003652
4512	COX1	Ventriculomegaly	HP:0002119
4512	COX1	Developmental regression	HP:0002376
4512	COX1	Cerebral cortical atrophy	HP:0002120
4512	COX1	Paresthesia	HP:0003401
4512	COX1	Cerebral ischemia	HP:0002637
4512	COX1	Abnormality of the genital system	HP:0000078
4512	COX1	Abnormality of the macula	HP:0001103
4512	COX1	Premature loss of teeth	HP:0006480
4512	COX1	Renal insufficiency	HP:0000083
4512	COX1	Goiter	HP:0000853
4512	COX1	Ophthalmoparesis	HP:0000597
4512	COX1	Aortic dissection	HP:0002647
4512	COX1	Leber optic atrophy	HP:0001112
4512	COX1	Central retinal vessel vascular tortuosity	HP:0007768
4512	COX1	Hemianopia	HP:0012377
4512	COX1	Type II diabetes mellitus	HP:0005978
4512	COX1	Ophthalmoplegia	HP:0000602
4512	COX1	Onset	HP:0003674
4512	COX1	Abnormality of the renal tubule	HP:0000091
4512	COX1	Proteinuria	HP:0000093
4512	COX1	Sudden loss of visual acuity	HP:0001117
4512	COX1	Intestinal obstruction	HP:0005214
4512	COX1	Cortical visual impairment	HP:0100704
4512	COX1	Stroke-like episodes	HP:0002401
4512	COX1	Myoglobinuria	HP:0002913
4512	COX1	Congestive heart failure	HP:0001635
4512	COX1	Visual field defect	HP:0001123
4512	COX1	Nephrotic syndrome	HP:0000100
4512	COX1	Hypercalciuria	HP:0002150
4512	COX1	Hypertrophic cardiomyopathy	HP:0001639
4512	COX1	Increased serum lactate	HP:0002151
4512	COX1	Decreased activity of cytochrome C oxidase in muscle tissue	HP:0003688
4512	COX1	Large central visual field defect	HP:0001129
4512	COX1	Hyperkalemia	HP:0002153
4512	COX1	Attention deficit hyperactivity disorder	HP:0007018
4512	COX1	Sudden cardiac death	HP:0001645
4512	COX1	Anemia	HP:0001903
4512	COX1	Abnormality of the liver	HP:0001392
4512	COX1	Exercise-induced myoglobinuria	HP:0008305
4512	COX1	Optic neuropathy	HP:0001138
4512	COX1	Neurological speech impairment	HP:0002167
4512	COX1	Abnormality of the pinna	HP:0000377
4512	COX1	Renal tubular dysfunction	HP:0000124
4512	COX1	Postural tremor	HP:0002174
4512	COX1	Myopathy	HP:0003198
4512	COX1	Acute kidney injury	HP:0001919
4512	COX1	Ichthyosis	HP:0008064
4512	COX1	Ragged-red muscle fibers	HP:0003200
4512	COX1	EMG abnormality	HP:0003457
4512	COX1	Skeletal muscle atrophy	HP:0003202
4512	COX1	Decreased liver function	HP:0001410
4512	COX1	Optic atrophy	HP:0000648
4512	COX1	Abnormality of visual evoked potentials	HP:0000649
4512	COX1	X-linked inheritance	HP:0001417
4512	COX1	Heterogeneous	HP:0001425
4512	COX1	Mitochondrial inheritance	HP:0001427
4512	COX1	Abnormality of metabolism/homeostasis	HP:0001939
4512	COX1	Nyctalopia	HP:0000662
4512	COX1	Sensorineural hearing impairment	HP:0000407
4512	COX1	Progressive sensorineural hearing impairment	HP:0000408
4512	COX1	Mitochondrial myopathy	HP:0003737
4512	COX1	Fever	HP:0001945
4512	COX1	Arrhythmia	HP:0011675
4512	COX1	Pulmonary embolism	HP:0002204
4512	COX1	Carious teeth	HP:0000670
4512	COX1	Elevated serum creatine phosphokinase	HP:0003236
4512	COX1	Increased hepatocellular lipid droplets	HP:0006565
4512	COX1	Feeding difficulties in infancy	HP:0008872
4512	COX1	Bilateral sensorineural hearing impairment	HP:0008619
4512	COX1	Left ventricular hypertrophy	HP:0001712
4512	COX1	Wolff-Parkinson-White syndrome	HP:0001716
4512	COX1	Increased CSF lactate	HP:0002490
4512	COX1	Respiratory insufficiency due to muscle weakness	HP:0002747
4512	COX1	Aortic dilatation	HP:0001724
4512	COX1	Delayed skeletal maturation	HP:0002750
4512	COX1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4512	COX1	Hepatomegaly	HP:0002240
4512	COX1	Pancreatitis	HP:0001733
4512	COX1	Aminoglycoside-induced hearing loss	HP:0011975
4512	COX1	Renal Fanconi syndrome	HP:0001994
4512	COX1	Autism	HP:0000717
4512	COX1	Increased intramyocellular lipid droplets	HP:0012240
4512	COX1	Involuntary movements	HP:0004305
4512	COX1	Cerebral calcification	HP:0002514
4512	COX1	Gingival overgrowth	HP:0000212
4512	COX1	Glomerulopathy	HP:0100820
4512	COX1	Dementia	HP:0000726
4512	COX1	Abnormality of mitochondrial metabolism	HP:0003287
4512	COX1	Exercise intolerance	HP:0003546
4512	COX1	Abnormality of neuronal migration	HP:0002269
4512	COX1	Amaurosis fugax	HP:0100576
4512	COX1	Nausea and vomiting	HP:0002017
4512	COX1	Intellectual disability	HP:0001249
4512	COX1	Hallucinations	HP:0000738
4512	COX1	Short stature	HP:0004322
4512	COX1	Seizures	HP:0001250
4512	COX1	Ataxia	HP:0001251
4512	COX1	Constipation	HP:0002019
4512	COX1	Growth abnormality	HP:0001507
4512	COX1	Muscular hypotonia	HP:0001252
4512	COX1	Failure to thrive	HP:0001508
4512	COX1	Decreased body weight	HP:0004325
4512	COX1	Hypertrichosis	HP:0000998
4512	COX1	Malabsorption	HP:0002024
4512	COX1	Abdominal pain	HP:0002027
4512	COX1	Acute rhabdomyolysis	HP:0008942
4512	COX1	Global developmental delay	HP:0001263
4512	COX1	Hyporeflexia	HP:0001265
4512	COX1	Arthrogryposis multiplex congenita	HP:0002804
4512	COX1	Multiple lipomas	HP:0001012
4512	COX1	Incomplete penetrance	HP:0003829
4512	COX1	Hemiparesis	HP:0001269
4512	COX1	Motor delay	HP:0001270
4512	COX1	Polyneuropathy	HP:0001271
4512	COX1	Anorexia	HP:0002039
4512	COX1	Visual impairment	HP:0000505
4512	COX1	Decreased nerve conduction velocity	HP:0000762
4512	COX1	Ptosis	HP:0000508
4512	COX1	Spontaneous hematomas	HP:0007420
4512	COX1	Microcephaly	HP:0000252
4512	COX1	Myalgia	HP:0003326
4513	COX2	Glycosuria	HP:0003076
4513	COX2	Cataract	HP:0000518
4513	COX2	Incoordination	HP:0002311
4513	COX2	Congenital cataract	HP:0000519
4513	COX2	Autosomal recessive inheritance	HP:0000007
4513	COX2	Episodic vomiting	HP:0002572
4513	COX2	Primary adrenal insufficiency	HP:0008207
4513	COX2	Abnormality of temperature regulation	HP:0004370
4513	COX2	Encephalopathy	HP:0001298
4513	COX2	Reduced consciousness/confusion	HP:0004372
4513	COX2	Generalized tonic-clonic seizures	HP:0002069
4513	COX2	Hemiplegia/hemiparesis	HP:0004374
4513	COX2	Abnormality of retinal pigmentation	HP:0007703
4513	COX2	Aminoaciduria	HP:0003355
4513	COX2	Migraine	HP:0002076
4513	COX2	Hypopigmented skin patches	HP:0001053
4513	COX2	Reduced tendon reflexes	HP:0001315
4513	COX2	Hyperphosphaturia	HP:0003109
4513	COX2	Thyroiditis	HP:0100646
4513	COX2	Mask-like facies	HP:0000298
4513	COX2	Type I diabetes mellitus	HP:0100651
4513	COX2	Pulmonary hypertension	HP:0002092
4513	COX2	Muscle weakness	HP:0001324
4513	COX2	Respiratory insufficiency	HP:0002093
4513	COX2	EEG abnormality	HP:0002353
4513	COX2	Memory impairment	HP:0002354
4513	COX2	Diabetes mellitus	HP:0000819
4513	COX2	Hypothyroidism	HP:0000821
4513	COX2	Hypertension	HP:0000822
4513	COX2	Apnea	HP:0002104
4513	COX2	Lactic acidosis	HP:0003128
4513	COX2	Tremor	HP:0001337
4513	COX2	Exertional dyspnea	HP:0002875
4513	COX2	Hypertelorism	HP:0000316
4513	COX2	Hypoparathyroidism	HP:0000829
4513	COX2	Anterior hypopituitarism	HP:0000830
4513	COX2	Respiratory difficulties	HP:0002880
4513	COX2	Hyperthyroidism	HP:0000836
4513	COX2	Pigmentary retinopathy	HP:0000580
4513	COX2	Ventriculomegaly	HP:0002119
4513	COX2	Developmental regression	HP:0002376
4513	COX2	Cerebral cortical atrophy	HP:0002120
4513	COX2	Paresthesia	HP:0003401
4513	COX2	Cerebral ischemia	HP:0002637
4513	COX2	Abnormality of the genital system	HP:0000078
4513	COX2	Abnormality of the macula	HP:0001103
4513	COX2	Premature loss of teeth	HP:0006480
4513	COX2	Renal insufficiency	HP:0000083
4513	COX2	Goiter	HP:0000853
4513	COX2	Ophthalmoparesis	HP:0000597
4513	COX2	Aortic dissection	HP:0002647
4513	COX2	Hemianopia	HP:0012377
4513	COX2	Type II diabetes mellitus	HP:0005978
4513	COX2	Ophthalmoplegia	HP:0000602
4513	COX2	Abnormality of the renal tubule	HP:0000091
4513	COX2	Proteinuria	HP:0000093
4513	COX2	Intestinal obstruction	HP:0005214
4513	COX2	Cortical visual impairment	HP:0100704
4513	COX2	Stroke-like episodes	HP:0002401
4513	COX2	Congestive heart failure	HP:0001635
4513	COX2	Visual field defect	HP:0001123
4513	COX2	Nephrotic syndrome	HP:0000100
4513	COX2	Hypercalciuria	HP:0002150
4513	COX2	Hypertrophic cardiomyopathy	HP:0001639
4513	COX2	Increased serum lactate	HP:0002151
4513	COX2	Decreased activity of cytochrome C oxidase in muscle tissue	HP:0003688
4513	COX2	Attention deficit hyperactivity disorder	HP:0007018
4513	COX2	Sudden cardiac death	HP:0001645
4513	COX2	Anemia	HP:0001903
4513	COX2	Abnormality of the liver	HP:0001392
4513	COX2	Neurological speech impairment	HP:0002167
4513	COX2	Abnormality of the pinna	HP:0000377
4513	COX2	Renal tubular dysfunction	HP:0000124
4513	COX2	Myopathy	HP:0003198
4513	COX2	Ichthyosis	HP:0008064
4513	COX2	Ragged-red muscle fibers	HP:0003200
4513	COX2	EMG abnormality	HP:0003457
4513	COX2	Skeletal muscle atrophy	HP:0003202
4513	COX2	Decreased liver function	HP:0001410
4513	COX2	Optic atrophy	HP:0000648
4513	COX2	Abnormality of visual evoked potentials	HP:0000649
4513	COX2	Mitochondrial inheritance	HP:0001427
4513	COX2	Nyctalopia	HP:0000662
4513	COX2	Sensorineural hearing impairment	HP:0000407
4513	COX2	Progressive sensorineural hearing impairment	HP:0000408
4513	COX2	Mitochondrial myopathy	HP:0003737
4513	COX2	Pulmonary embolism	HP:0002204
4513	COX2	Carious teeth	HP:0000670
4513	COX2	Increased hepatocellular lipid droplets	HP:0006565
4513	COX2	Feeding difficulties in infancy	HP:0008872
4513	COX2	Bilateral sensorineural hearing impairment	HP:0008619
4513	COX2	Left ventricular hypertrophy	HP:0001712
4513	COX2	Wolff-Parkinson-White syndrome	HP:0001716
4513	COX2	Increased CSF lactate	HP:0002490
4513	COX2	Respiratory insufficiency due to muscle weakness	HP:0002747
4513	COX2	Aortic dilatation	HP:0001724
4513	COX2	Delayed skeletal maturation	HP:0002750
4513	COX2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4513	COX2	Hepatomegaly	HP:0002240
4513	COX2	Pancreatitis	HP:0001733
4513	COX2	Renal Fanconi syndrome	HP:0001994
4513	COX2	Autism	HP:0000717
4513	COX2	Increased intramyocellular lipid droplets	HP:0012240
4513	COX2	Involuntary movements	HP:0004305
4513	COX2	Cerebral calcification	HP:0002514
4513	COX2	Gingival overgrowth	HP:0000212
4513	COX2	Glomerulopathy	HP:0100820
4513	COX2	Dementia	HP:0000726
4513	COX2	Abnormality of mitochondrial metabolism	HP:0003287
4513	COX2	Exercise intolerance	HP:0003546
4513	COX2	Abnormality of neuronal migration	HP:0002269
4513	COX2	Amaurosis fugax	HP:0100576
4513	COX2	Nausea and vomiting	HP:0002017
4513	COX2	Intellectual disability	HP:0001249
4513	COX2	Hallucinations	HP:0000738
4513	COX2	Short stature	HP:0004322
4513	COX2	Seizures	HP:0001250
4513	COX2	Constipation	HP:0002019
4513	COX2	Growth abnormality	HP:0001507
4513	COX2	Ataxia	HP:0001251
4513	COX2	Muscular hypotonia	HP:0001252
4513	COX2	Failure to thrive	HP:0001508
4513	COX2	Decreased body weight	HP:0004325
4513	COX2	Hypertrichosis	HP:0000998
4513	COX2	Malabsorption	HP:0002024
4513	COX2	Abdominal pain	HP:0002027
4513	COX2	Global developmental delay	HP:0001263
4513	COX2	Arthrogryposis multiplex congenita	HP:0002804
4513	COX2	Multiple lipomas	HP:0001012
4513	COX2	Hemiparesis	HP:0001269
4513	COX2	Motor delay	HP:0001270
4513	COX2	Anorexia	HP:0002039
4513	COX2	Visual impairment	HP:0000505
4513	COX2	Decreased nerve conduction velocity	HP:0000762
4513	COX2	Ptosis	HP:0000508
4513	COX2	Spontaneous hematomas	HP:0007420
4513	COX2	Microcephaly	HP:0000252
4513	COX2	Myalgia	HP:0003326
4508	ATP6	Ragged-red muscle fibers	HP:0003200
4508	ATP6	Retinal pigment epithelial mottling	HP:0007814
4508	ATP6	Incoordination	HP:0002311
4508	ATP6	Autosomal recessive inheritance	HP:0000007
4508	ATP6	Optic atrophy	HP:0000648
4508	ATP6	Infantile onset	HP:0003593
4508	ATP6	CNS demyelination	HP:0007305
4508	ATP6	X-linked inheritance	HP:0001417
4508	ATP6	Pendular nystagmus	HP:0012043
4508	ATP6	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
4508	ATP6	Heterogeneous	HP:0001425
4508	ATP6	Mitochondrial inheritance	HP:0001427
4508	ATP6	Sensorineural hearing impairment	HP:0000407
4508	ATP6	Mitochondrial myopathy	HP:0003737
4508	ATP6	Arrhythmia	HP:0011675
4508	ATP6	Babinski sign	HP:0003487
4508	ATP6	Respiratory insufficiency	HP:0002093
4508	ATP6	Difficulty walking	HP:0002355
4508	ATP6	Dystonia	HP:0001332
4508	ATP6	Frequent falls	HP:0002359
4508	ATP6	Abnormality of movement	HP:0100022
4508	ATP6	Lactic acidosis	HP:0003128
4508	ATP6	Paroxysmal choreoathetosis	HP:0007098
4508	ATP6	Increased CSF lactate	HP:0002490
4508	ATP6	Visual loss	HP:0000572
4508	ATP6	Cognitive impairment	HP:0100543
4508	ATP6	Respiratory failure	HP:0002878
4508	ATP6	Centrocecal scotoma	HP:0000576
4508	ATP6	Hyperreflexia	HP:0001347
4508	ATP6	Pigmentary retinopathy	HP:0000580
4508	ATP6	Emotional lability	HP:0000712
4508	ATP6	Developmental regression	HP:0002376
4508	ATP6	Corticospinal tract atrophy	HP:0007117
4508	ATP6	Ophthalmoparesis	HP:0000597
4508	ATP6	Dementia	HP:0000726
4508	ATP6	Leber optic atrophy	HP:0001112
4508	ATP6	Central retinal vessel vascular tortuosity	HP:0007768
4508	ATP6	Ophthalmoplegia	HP:0000602
4508	ATP6	Progressive	HP:0003676
4508	ATP6	Dysphagia	HP:0002015
4508	ATP6	Intellectual disability	HP:0001249
4508	ATP6	Seizures	HP:0001250
4508	ATP6	Ataxia	HP:0001251
4508	ATP6	Muscular hypotonia	HP:0001252
4508	ATP6	Failure to thrive	HP:0001508
4508	ATP6	Phenotypic variability	HP:0003812
4508	ATP6	Strabismus	HP:0000486
4508	ATP6	Hypertrichosis	HP:0000998
4508	ATP6	Increased serum lactate	HP:0002151
4508	ATP6	Abnormal pattern of respiration	HP:0002793
4508	ATP6	Spasticity	HP:0001257
4508	ATP6	Blindness	HP:0000618
4508	ATP6	Dysarthria	HP:0001260
4508	ATP6	Global developmental delay	HP:0001263
4508	ATP6	Developmental stagnation	HP:0007281
4508	ATP6	Optic neuropathy	HP:0001138
4508	ATP6	Choreoathetosis	HP:0001266
4508	ATP6	Incomplete penetrance	HP:0003829
4508	ATP6	Proximal muscle weakness	HP:0003701
4508	ATP6	Polyneuropathy	HP:0001271
4508	ATP6	Sensory neuropathy	HP:0000763
4508	ATP6	Gliosis	HP:0002171
4508	ATP6	Ptosis	HP:0000508
4508	ATP6	Hepatocellular necrosis	HP:0001404
4508	ATP6	Postural tremor	HP:0002174
4508	ATP6	Myopathy	HP:0003198
4508	ATP6	Rod-cone dystrophy	HP:0000510
4508	ATP6	Nystagmus	HP:0000639
4514	COX3	Glycosuria	HP:0003076
4514	COX3	Areflexia	HP:0001284
4514	COX3	Cataract	HP:0000518
4514	COX3	Incoordination	HP:0002311
4514	COX3	Congenital cataract	HP:0000519
4514	COX3	Autosomal recessive inheritance	HP:0000007
4514	COX3	Headache	HP:0002315
4514	COX3	Episodic vomiting	HP:0002572
4514	COX3	Primary adrenal insufficiency	HP:0008207
4514	COX3	Abnormality of temperature regulation	HP:0004370
4514	COX3	Encephalopathy	HP:0001298
4514	COX3	Reduced consciousness/confusion	HP:0004372
4514	COX3	Generalized tonic-clonic seizures	HP:0002069
4514	COX3	Hemiplegia/hemiparesis	HP:0004374
4514	COX3	Abnormality of retinal pigmentation	HP:0007703
4514	COX3	Aminoaciduria	HP:0003355
4514	COX3	Migraine	HP:0002076
4514	COX3	Hypopigmented skin patches	HP:0001053
4514	COX3	Optic disc pallor	HP:0000543
4514	COX3	Reduced tendon reflexes	HP:0001315
4514	COX3	Hyperphosphaturia	HP:0003109
4514	COX3	Thyroiditis	HP:0100646
4514	COX3	Mask-like facies	HP:0000298
4514	COX3	Type I diabetes mellitus	HP:0100651
4514	COX3	Pulmonary hypertension	HP:0002092
4514	COX3	Muscle weakness	HP:0001324
4514	COX3	Respiratory insufficiency	HP:0002093
4514	COX3	EEG abnormality	HP:0002353
4514	COX3	Memory impairment	HP:0002354
4514	COX3	Diabetes mellitus	HP:0000819
4514	COX3	Dystonia	HP:0001332
4514	COX3	Hypothyroidism	HP:0000821
4514	COX3	Hypertension	HP:0000822
4514	COX3	Apnea	HP:0002104
4514	COX3	Lactic acidosis	HP:0003128
4514	COX3	Tremor	HP:0001337
4514	COX3	Exertional dyspnea	HP:0002875
4514	COX3	Visual loss	HP:0000572
4514	COX3	Hypertelorism	HP:0000316
4514	COX3	Hypoparathyroidism	HP:0000829
4514	COX3	Papilledema	HP:0001085
4514	COX3	Anterior hypopituitarism	HP:0000830
4514	COX3	Centrocecal scotoma	HP:0000576
4514	COX3	Respiratory difficulties	HP:0002880
4514	COX3	Hyperthyroidism	HP:0000836
4514	COX3	Pigmentary retinopathy	HP:0000580
4514	COX3	Recurrent myoglobinuria	HP:0003652
4514	COX3	Ventriculomegaly	HP:0002119
4514	COX3	Developmental regression	HP:0002376
4514	COX3	Cerebral cortical atrophy	HP:0002120
4514	COX3	Paresthesia	HP:0003401
4514	COX3	Cerebral ischemia	HP:0002637
4514	COX3	Abnormality of the genital system	HP:0000078
4514	COX3	Abnormality of the macula	HP:0001103
4514	COX3	Premature loss of teeth	HP:0006480
4514	COX3	Renal insufficiency	HP:0000083
4514	COX3	Goiter	HP:0000853
4514	COX3	Ophthalmoparesis	HP:0000597
4514	COX3	Aortic dissection	HP:0002647
4514	COX3	Leber optic atrophy	HP:0001112
4514	COX3	Central retinal vessel vascular tortuosity	HP:0007768
4514	COX3	Hemianopia	HP:0012377
4514	COX3	Type II diabetes mellitus	HP:0005978
4514	COX3	Ophthalmoplegia	HP:0000602
4514	COX3	Onset	HP:0003674
4514	COX3	Abnormality of the renal tubule	HP:0000091
4514	COX3	Proteinuria	HP:0000093
4514	COX3	Sudden loss of visual acuity	HP:0001117
4514	COX3	Intestinal obstruction	HP:0005214
4514	COX3	Cortical visual impairment	HP:0100704
4514	COX3	Stroke-like episodes	HP:0002401
4514	COX3	Myoglobinuria	HP:0002913
4514	COX3	Congestive heart failure	HP:0001635
4514	COX3	Visual field defect	HP:0001123
4514	COX3	Nephrotic syndrome	HP:0000100
4514	COX3	Hypercalciuria	HP:0002150
4514	COX3	Hypertrophic cardiomyopathy	HP:0001639
4514	COX3	Increased serum lactate	HP:0002151
4514	COX3	Decreased activity of cytochrome C oxidase in muscle tissue	HP:0003688
4514	COX3	Large central visual field defect	HP:0001129
4514	COX3	Hyperkalemia	HP:0002153
4514	COX3	Attention deficit hyperactivity disorder	HP:0007018
4514	COX3	Sudden cardiac death	HP:0001645
4514	COX3	Anemia	HP:0001903
4514	COX3	Abnormality of the liver	HP:0001392
4514	COX3	Exercise-induced myoglobinuria	HP:0008305
4514	COX3	Optic neuropathy	HP:0001138
4514	COX3	Neurological speech impairment	HP:0002167
4514	COX3	Abnormality of the pinna	HP:0000377
4514	COX3	Renal tubular dysfunction	HP:0000124
4514	COX3	Postural tremor	HP:0002174
4514	COX3	Myopathy	HP:0003198
4514	COX3	Acute kidney injury	HP:0001919
4514	COX3	Ichthyosis	HP:0008064
4514	COX3	Ragged-red muscle fibers	HP:0003200
4514	COX3	EMG abnormality	HP:0003457
4514	COX3	Skeletal muscle atrophy	HP:0003202
4514	COX3	Decreased liver function	HP:0001410
4514	COX3	Optic atrophy	HP:0000648
4514	COX3	Abnormality of visual evoked potentials	HP:0000649
4514	COX3	X-linked inheritance	HP:0001417
4514	COX3	Heterogeneous	HP:0001425
4514	COX3	Mitochondrial inheritance	HP:0001427
4514	COX3	Abnormality of metabolism/homeostasis	HP:0001939
4514	COX3	Nyctalopia	HP:0000662
4514	COX3	Sensorineural hearing impairment	HP:0000407
4514	COX3	Progressive sensorineural hearing impairment	HP:0000408
4514	COX3	Mitochondrial myopathy	HP:0003737
4514	COX3	Fever	HP:0001945
4514	COX3	Arrhythmia	HP:0011675
4514	COX3	Pulmonary embolism	HP:0002204
4514	COX3	Carious teeth	HP:0000670
4514	COX3	Elevated serum creatine phosphokinase	HP:0003236
4514	COX3	Increased hepatocellular lipid droplets	HP:0006565
4514	COX3	Feeding difficulties in infancy	HP:0008872
4514	COX3	Bilateral sensorineural hearing impairment	HP:0008619
4514	COX3	Left ventricular hypertrophy	HP:0001712
4514	COX3	Wolff-Parkinson-White syndrome	HP:0001716
4514	COX3	Increased CSF lactate	HP:0002490
4514	COX3	Respiratory insufficiency due to muscle weakness	HP:0002747
4514	COX3	Aortic dilatation	HP:0001724
4514	COX3	Delayed skeletal maturation	HP:0002750
4514	COX3	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4514	COX3	Hepatomegaly	HP:0002240
4514	COX3	Pancreatitis	HP:0001733
4514	COX3	Renal Fanconi syndrome	HP:0001994
4514	COX3	Autism	HP:0000717
4514	COX3	Increased intramyocellular lipid droplets	HP:0012240
4514	COX3	Involuntary movements	HP:0004305
4514	COX3	Cerebral calcification	HP:0002514
4514	COX3	Gingival overgrowth	HP:0000212
4514	COX3	Glomerulopathy	HP:0100820
4514	COX3	Dementia	HP:0000726
4514	COX3	Abnormality of mitochondrial metabolism	HP:0003287
4514	COX3	Exercise intolerance	HP:0003546
4514	COX3	Abnormality of neuronal migration	HP:0002269
4514	COX3	Amaurosis fugax	HP:0100576
4514	COX3	Nausea and vomiting	HP:0002017
4514	COX3	Intellectual disability	HP:0001249
4514	COX3	Hallucinations	HP:0000738
4514	COX3	Short stature	HP:0004322
4514	COX3	Seizures	HP:0001250
4514	COX3	Ataxia	HP:0001251
4514	COX3	Constipation	HP:0002019
4514	COX3	Growth abnormality	HP:0001507
4514	COX3	Muscular hypotonia	HP:0001252
4514	COX3	Failure to thrive	HP:0001508
4514	COX3	Decreased body weight	HP:0004325
4514	COX3	Hypertrichosis	HP:0000998
4514	COX3	Malabsorption	HP:0002024
4514	COX3	Abdominal pain	HP:0002027
4514	COX3	Acute rhabdomyolysis	HP:0008942
4514	COX3	Global developmental delay	HP:0001263
4514	COX3	Hyporeflexia	HP:0001265
4514	COX3	Arthrogryposis multiplex congenita	HP:0002804
4514	COX3	Multiple lipomas	HP:0001012
4514	COX3	Incomplete penetrance	HP:0003829
4514	COX3	Hemiparesis	HP:0001269
4514	COX3	Motor delay	HP:0001270
4514	COX3	Polyneuropathy	HP:0001271
4514	COX3	Anorexia	HP:0002039
4514	COX3	Visual impairment	HP:0000505
4514	COX3	Decreased nerve conduction velocity	HP:0000762
4514	COX3	Ptosis	HP:0000508
4514	COX3	Spontaneous hematomas	HP:0007420
4514	COX3	Microcephaly	HP:0000252
4514	COX3	Myalgia	HP:0003326
4540	ND5	Cataract	HP:0000518
4540	ND5	Incoordination	HP:0002311
4540	ND5	Autosomal recessive inheritance	HP:0000007
4540	ND5	Congenital cataract	HP:0000519
4540	ND5	Infantile onset	HP:0003593
4540	ND5	Headache	HP:0002315
4540	ND5	Episodic vomiting	HP:0002572
4540	ND5	Primary adrenal insufficiency	HP:0008207
4540	ND5	Abnormality of temperature regulation	HP:0004370
4540	ND5	Encephalopathy	HP:0001298
4540	ND5	Reduced consciousness/confusion	HP:0004372
4540	ND5	Generalized tonic-clonic seizures	HP:0002069
4540	ND5	Hemiplegia/hemiparesis	HP:0004374
4540	ND5	Abnormality of retinal pigmentation	HP:0007703
4540	ND5	Migraine	HP:0002076
4540	ND5	Hypopigmented skin patches	HP:0001053
4540	ND5	Optic disc pallor	HP:0000543
4540	ND5	Reduced tendon reflexes	HP:0001315
4540	ND5	Thyroiditis	HP:0100646
4540	ND5	Mask-like facies	HP:0000298
4540	ND5	Type I diabetes mellitus	HP:0100651
4540	ND5	Muscle weakness	HP:0001324
4540	ND5	Pulmonary hypertension	HP:0002092
4540	ND5	Respiratory insufficiency	HP:0002093
4540	ND5	EEG abnormality	HP:0002353
4540	ND5	Memory impairment	HP:0002354
4540	ND5	Diabetes mellitus	HP:0000819
4540	ND5	Dystonia	HP:0001332
4540	ND5	Hypothyroidism	HP:0000821
4540	ND5	Hypertension	HP:0000822
4540	ND5	Lactic acidosis	HP:0003128
4540	ND5	Myoclonus	HP:0001336
4540	ND5	Apnea	HP:0002104
4540	ND5	Tremor	HP:0001337
4540	ND5	Visual loss	HP:0000572
4540	ND5	Hypertelorism	HP:0000316
4540	ND5	Hypoparathyroidism	HP:0000829
4540	ND5	Papilledema	HP:0001085
4540	ND5	Respiratory failure	HP:0002878
4540	ND5	Anterior hypopituitarism	HP:0000830
4540	ND5	Centrocecal scotoma	HP:0000576
4540	ND5	Hyperreflexia	HP:0001347
4540	ND5	Pigmentary retinopathy	HP:0000580
4540	ND5	Hyperthyroidism	HP:0000836
4540	ND5	Ventriculomegaly	HP:0002119
4540	ND5	Developmental regression	HP:0002376
4540	ND5	Cerebral cortical atrophy	HP:0002120
4540	ND5	Paresthesia	HP:0003401
4540	ND5	Generalized myoclonic seizures	HP:0002123
4540	ND5	Cerebral ischemia	HP:0002637
4540	ND5	Abnormality of the genital system	HP:0000078
4540	ND5	Abnormality of the macula	HP:0001103
4540	ND5	Premature loss of teeth	HP:0006480
4540	ND5	Renal insufficiency	HP:0000083
4540	ND5	Ophthalmoparesis	HP:0000597
4540	ND5	Goiter	HP:0000853
4540	ND5	Aortic dissection	HP:0002647
4540	ND5	Leber optic atrophy	HP:0001112
4540	ND5	Central retinal vessel vascular tortuosity	HP:0007768
4540	ND5	Hemianopia	HP:0012377
4540	ND5	Ophthalmoplegia	HP:0000602
4540	ND5	Type II diabetes mellitus	HP:0005978
4540	ND5	Onset	HP:0003674
4540	ND5	Abnormality of the renal tubule	HP:0000091
4540	ND5	Progressive	HP:0003676
4540	ND5	Proteinuria	HP:0000093
4540	ND5	Sudden loss of visual acuity	HP:0001117
4540	ND5	Intestinal obstruction	HP:0005214
4540	ND5	Cortical visual impairment	HP:0100704
4540	ND5	Stroke-like episodes	HP:0002401
4540	ND5	Congestive heart failure	HP:0001635
4540	ND5	Visual field defect	HP:0001123
4540	ND5	Nephrotic syndrome	HP:0000100
4540	ND5	Hypercalciuria	HP:0002150
4540	ND5	Increased serum lactate	HP:0002151
4540	ND5	Hypertrophic cardiomyopathy	HP:0001639
4540	ND5	Large central visual field defect	HP:0001129
4540	ND5	Attention deficit hyperactivity disorder	HP:0007018
4540	ND5	Sudden cardiac death	HP:0001645
4540	ND5	Abnormality of the liver	HP:0001392
4540	ND5	Optic neuropathy	HP:0001138
4540	ND5	Neurological speech impairment	HP:0002167
4540	ND5	Abnormality of the pinna	HP:0000377
4540	ND5	Gliosis	HP:0002171
4540	ND5	Hepatocellular necrosis	HP:0001404
4540	ND5	Postural tremor	HP:0002174
4540	ND5	Myopathy	HP:0003198
4540	ND5	Nystagmus	HP:0000639
4540	ND5	Ragged-red muscle fibers	HP:0003200
4540	ND5	Ichthyosis	HP:0008064
4540	ND5	EMG abnormality	HP:0003457
4540	ND5	Skeletal muscle atrophy	HP:0003202
4540	ND5	Optic atrophy	HP:0000648
4540	ND5	CNS demyelination	HP:0007305
4540	ND5	Abnormality of visual evoked potentials	HP:0000649
4540	ND5	X-linked inheritance	HP:0001417
4540	ND5	Heterogeneous	HP:0001425
4540	ND5	Mitochondrial inheritance	HP:0001427
4540	ND5	Abnormality of metabolism/homeostasis	HP:0001939
4540	ND5	Nyctalopia	HP:0000662
4540	ND5	Sensorineural hearing impairment	HP:0000407
4540	ND5	Progressive sensorineural hearing impairment	HP:0000408
4540	ND5	Mitochondrial myopathy	HP:0003737
4540	ND5	Arrhythmia	HP:0011675
4540	ND5	Pulmonary embolism	HP:0002204
4540	ND5	Carious teeth	HP:0000670
4540	ND5	Feeding difficulties in infancy	HP:0008872
4540	ND5	Bilateral sensorineural hearing impairment	HP:0008619
4540	ND5	Left ventricular hypertrophy	HP:0001712
4540	ND5	Wolff-Parkinson-White syndrome	HP:0001716
4540	ND5	Abnormality of movement	HP:0100022
4540	ND5	Increased CSF lactate	HP:0002490
4540	ND5	Aortic dilatation	HP:0001724
4540	ND5	Cognitive impairment	HP:0100543
4540	ND5	Delayed skeletal maturation	HP:0002750
4540	ND5	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4540	ND5	Pancreatitis	HP:0001733
4540	ND5	Emotional lability	HP:0000712
4540	ND5	Autism	HP:0000717
4540	ND5	Involuntary movements	HP:0004305
4540	ND5	Cerebral calcification	HP:0002514
4540	ND5	Gingival overgrowth	HP:0000212
4540	ND5	Glomerulopathy	HP:0100820
4540	ND5	Increased serum pyruvate	HP:0003542
4540	ND5	Dementia	HP:0000726
4540	ND5	Abnormality of mitochondrial metabolism	HP:0003287
4540	ND5	Abnormality of neuronal migration	HP:0002269
4540	ND5	Intellectual disability	HP:0001249
4540	ND5	Amaurosis fugax	HP:0100576
4540	ND5	Nausea and vomiting	HP:0002017
4540	ND5	Seizures	HP:0001250
4540	ND5	Short stature	HP:0004322
4540	ND5	Hallucinations	HP:0000738
4540	ND5	Ataxia	HP:0001251
4540	ND5	Constipation	HP:0002019
4540	ND5	Growth abnormality	HP:0001507
4540	ND5	Failure to thrive	HP:0001508
4540	ND5	Muscular hypotonia	HP:0001252
4540	ND5	Phenotypic variability	HP:0003812
4540	ND5	Decreased body weight	HP:0004325
4540	ND5	Strabismus	HP:0000486
4540	ND5	Hypertrichosis	HP:0000998
4540	ND5	Malabsorption	HP:0002024
4540	ND5	Abnormal pattern of respiration	HP:0002793
4540	ND5	Spasticity	HP:0001257
4540	ND5	Abdominal pain	HP:0002027
4540	ND5	Dysarthria	HP:0001260
4540	ND5	Global developmental delay	HP:0001263
4540	ND5	Multiple lipomas	HP:0001012
4540	ND5	Arthrogryposis multiplex congenita	HP:0002804
4540	ND5	Incomplete penetrance	HP:0003829
4540	ND5	Hemiparesis	HP:0001269
4540	ND5	Polyneuropathy	HP:0001271
4540	ND5	Anorexia	HP:0002039
4540	ND5	Visual impairment	HP:0000505
4540	ND5	Decreased nerve conduction velocity	HP:0000762
4540	ND5	Ptosis	HP:0000508
4540	ND5	Spontaneous hematomas	HP:0007420
4540	ND5	Microcephaly	HP:0000252
4540	ND5	Myalgia	HP:0003326
4541	ND6	Athetosis	HP:0002305
4541	ND6	Cataract	HP:0000518
4541	ND6	Autosomal dominant inheritance	HP:0000006
4541	ND6	Incoordination	HP:0002311
4541	ND6	Autosomal recessive inheritance	HP:0000007
4541	ND6	Congenital cataract	HP:0000519
4541	ND6	Infantile onset	HP:0003593
4541	ND6	Headache	HP:0002315
4541	ND6	Episodic vomiting	HP:0002572
4541	ND6	Primary adrenal insufficiency	HP:0008207
4541	ND6	Abnormality of temperature regulation	HP:0004370
4541	ND6	Encephalopathy	HP:0001298
4541	ND6	Bradykinesia	HP:0002067
4541	ND6	Reduced consciousness/confusion	HP:0004372
4541	ND6	Generalized tonic-clonic seizures	HP:0002069
4541	ND6	Hemiplegia/hemiparesis	HP:0004374
4541	ND6	Abnormality of retinal pigmentation	HP:0007703
4541	ND6	Migraine	HP:0002076
4541	ND6	Hypopigmented skin patches	HP:0001053
4541	ND6	Optic disc pallor	HP:0000543
4541	ND6	Reduced tendon reflexes	HP:0001315
4541	ND6	Thyroiditis	HP:0100646
4541	ND6	Mask-like facies	HP:0000298
4541	ND6	Type I diabetes mellitus	HP:0100651
4541	ND6	Pulmonary hypertension	HP:0002092
4541	ND6	Muscle weakness	HP:0001324
4541	ND6	Optic neuritis	HP:0100653
4541	ND6	Respiratory insufficiency	HP:0002093
4541	ND6	EEG abnormality	HP:0002353
4541	ND6	Memory impairment	HP:0002354
4541	ND6	Diabetes mellitus	HP:0000819
4541	ND6	Dystonia	HP:0001332
4541	ND6	Hypothyroidism	HP:0000821
4541	ND6	Hypertension	HP:0000822
4541	ND6	Lactic acidosis	HP:0003128
4541	ND6	Apnea	HP:0002104
4541	ND6	Tremor	HP:0001337
4541	ND6	Visual loss	HP:0000572
4541	ND6	Hypertelorism	HP:0000316
4541	ND6	Hypoparathyroidism	HP:0000829
4541	ND6	Papilledema	HP:0001085
4541	ND6	Respiratory failure	HP:0002878
4541	ND6	Anterior hypopituitarism	HP:0000830
4541	ND6	Centrocecal scotoma	HP:0000576
4541	ND6	Hyperreflexia	HP:0001347
4541	ND6	Pigmentary retinopathy	HP:0000580
4541	ND6	Hyperthyroidism	HP:0000836
4541	ND6	Ventriculomegaly	HP:0002119
4541	ND6	Developmental regression	HP:0002376
4541	ND6	Cerebral cortical atrophy	HP:0002120
4541	ND6	Paresthesia	HP:0003401
4541	ND6	Cerebral ischemia	HP:0002637
4541	ND6	Abnormality of the genital system	HP:0000078
4541	ND6	Abnormality of the macula	HP:0001103
4541	ND6	Premature loss of teeth	HP:0006480
4541	ND6	Renal insufficiency	HP:0000083
4541	ND6	Ophthalmoparesis	HP:0000597
4541	ND6	Goiter	HP:0000853
4541	ND6	Aortic dissection	HP:0002647
4541	ND6	Leber optic atrophy	HP:0001112
4541	ND6	Central retinal vessel vascular tortuosity	HP:0007768
4541	ND6	Peripheral demyelination	HP:0011096
4541	ND6	Hemianopia	HP:0012377
4541	ND6	Ophthalmoplegia	HP:0000602
4541	ND6	Type II diabetes mellitus	HP:0005978
4541	ND6	Onset	HP:0003674
4541	ND6	Scoliosis	HP:0002650
4541	ND6	Abnormality of the renal tubule	HP:0000091
4541	ND6	Progressive	HP:0003676
4541	ND6	Proteinuria	HP:0000093
4541	ND6	Sudden loss of visual acuity	HP:0001117
4541	ND6	Intestinal obstruction	HP:0005214
4541	ND6	Cortical visual impairment	HP:0100704
4541	ND6	Stroke-like episodes	HP:0002401
4541	ND6	Congestive heart failure	HP:0001635
4541	ND6	Visual field defect	HP:0001123
4541	ND6	Nephrotic syndrome	HP:0000100
4541	ND6	Hypercalciuria	HP:0002150
4541	ND6	Peripheral neuropathy	HP:0009830
4541	ND6	Increased serum lactate	HP:0002151
4541	ND6	Hypertrophic cardiomyopathy	HP:0001639
4541	ND6	Large central visual field defect	HP:0001129
4541	ND6	Attention deficit hyperactivity disorder	HP:0007018
4541	ND6	Sudden cardiac death	HP:0001645
4541	ND6	Abnormality of the liver	HP:0001392
4541	ND6	Optic neuropathy	HP:0001138
4541	ND6	Neurological speech impairment	HP:0002167
4541	ND6	Abnormality of the pinna	HP:0000377
4541	ND6	Gliosis	HP:0002171
4541	ND6	Hepatocellular necrosis	HP:0001404
4541	ND6	Postural tremor	HP:0002174
4541	ND6	Myopathy	HP:0003198
4541	ND6	Nystagmus	HP:0000639
4541	ND6	Ichthyosis	HP:0008064
4541	ND6	Ragged-red muscle fibers	HP:0003200
4541	ND6	EMG abnormality	HP:0003457
4541	ND6	Skeletal muscle atrophy	HP:0003202
4541	ND6	Optic atrophy	HP:0000648
4541	ND6	CNS demyelination	HP:0007305
4541	ND6	Abnormality of visual evoked potentials	HP:0000649
4541	ND6	X-linked inheritance	HP:0001417
4541	ND6	Heterogeneous	HP:0001425
4541	ND6	Mitochondrial inheritance	HP:0001427
4541	ND6	Abnormality of metabolism/homeostasis	HP:0001939
4541	ND6	Nyctalopia	HP:0000662
4541	ND6	Sensorineural hearing impairment	HP:0000407
4541	ND6	Progressive sensorineural hearing impairment	HP:0000408
4541	ND6	Mitochondrial myopathy	HP:0003737
4541	ND6	Arrhythmia	HP:0011675
4541	ND6	Pulmonary embolism	HP:0002204
4541	ND6	Carious teeth	HP:0000670
4541	ND6	Feeding difficulties in infancy	HP:0008872
4541	ND6	Bilateral sensorineural hearing impairment	HP:0008619
4541	ND6	Left ventricular hypertrophy	HP:0001712
4541	ND6	Wolff-Parkinson-White syndrome	HP:0001716
4541	ND6	Abnormality of movement	HP:0100022
4541	ND6	Increased CSF lactate	HP:0002490
4541	ND6	Aortic dilatation	HP:0001724
4541	ND6	Cognitive impairment	HP:0100543
4541	ND6	Delayed skeletal maturation	HP:0002750
4541	ND6	Aplasia/Hypoplasia of the cerebellum	HP:0007360
4541	ND6	Pancreatitis	HP:0001733
4541	ND6	Emotional lability	HP:0000712
4541	ND6	Autism	HP:0000717
4541	ND6	Involuntary movements	HP:0004305
4541	ND6	Cerebral calcification	HP:0002514
4541	ND6	Gingival overgrowth	HP:0000212
4541	ND6	Glomerulopathy	HP:0100820
4541	ND6	Dementia	HP:0000726
4541	ND6	Abnormality of mitochondrial metabolism	HP:0003287
4541	ND6	Abnormality of neuronal migration	HP:0002269
4541	ND6	Dysphagia	HP:0002015
4541	ND6	Intellectual disability	HP:0001249
4541	ND6	Amaurosis fugax	HP:0100576
4541	ND6	Nausea and vomiting	HP:0002017
4541	ND6	Seizures	HP:0001250
4541	ND6	Hallucinations	HP:0000738
4541	ND6	Short stature	HP:0004322
4541	ND6	Ataxia	HP:0001251
4541	ND6	Constipation	HP:0002019
4541	ND6	Growth abnormality	HP:0001507
4541	ND6	Failure to thrive	HP:0001508
4541	ND6	Muscular hypotonia	HP:0001252
4541	ND6	Phenotypic variability	HP:0003812
4541	ND6	Decreased body weight	HP:0004325
4541	ND6	Strabismus	HP:0000486
4541	ND6	Hypertrichosis	HP:0000998
4541	ND6	Malabsorption	HP:0002024
4541	ND6	Abnormal pattern of respiration	HP:0002793
4541	ND6	Spasticity	HP:0001257
4541	ND6	Bilateral basal ganglia lesions	HP:0007146
4541	ND6	Abdominal pain	HP:0002027
4541	ND6	Dysarthria	HP:0001260
4541	ND6	Global developmental delay	HP:0001263
4541	ND6	Abnormality of eye movement	HP:0000496
4541	ND6	Arthrogryposis multiplex congenita	HP:0002804
4541	ND6	Multiple lipomas	HP:0001012
4541	ND6	Incomplete penetrance	HP:0003829
4541	ND6	Hemiparesis	HP:0001269
4541	ND6	Polyneuropathy	HP:0001271
4541	ND6	Anorexia	HP:0002039
4541	ND6	Visual impairment	HP:0000505
4541	ND6	Decreased nerve conduction velocity	HP:0000762
4541	ND6	Ptosis	HP:0000508
4541	ND6	Spontaneous hematomas	HP:0007420
4541	ND6	Microcephaly	HP:0000252
4541	ND6	Myalgia	HP:0003326
4547	MTTP	Reduced tendon reflexes	HP:0001315
4547	MTTP	Ataxia	HP:0001251
4547	MTTP	Muscular hypotonia	HP:0001252
4547	MTTP	Fat malabsorption	HP:0002630
4547	MTTP	Acanthocytosis	HP:0001927
4547	MTTP	Autosomal recessive inheritance	HP:0000007
4547	MTTP	Incoordination	HP:0002311
4547	MTTP	Retinopathy	HP:0000488
4547	MTTP	Malabsorption	HP:0002024
4547	MTTP	CNS demyelination	HP:0007305
4547	MTTP	Abetalipoproteinemia	HP:0008181
4547	MTTP	Abnormality of movement	HP:0100022
4547	MTTP	Abnormality of retinal pigmentation	HP:0007703
4547	MTTP	Peripheral demyelination	HP:0011096
4547	MTTP	Visual impairment	HP:0000505
4547	MTTP	Pigmentary retinal degeneration	HP:0001146
6736	SRY	Gonadal dysgenesis	HP:0000133
6736	SRY	Autosomal dominant inheritance	HP:0000006
6736	SRY	Ovarian neoplasm	HP:0100615
6736	SRY	Autosomal recessive inheritance	HP:0000007
6736	SRY	X-linked inheritance	HP:0001417
6736	SRY	Testicular dysgenesis	HP:0008715
6736	SRY	Dysgerminoma	HP:0100621
6736	SRY	Hypoplasia of the uterus	HP:0000013
6736	SRY	X-linked dominant inheritance	HP:0001423
6736	SRY	Primary adrenal insufficiency	HP:0008207
6736	SRY	Decreased fertility	HP:0000144
6736	SRY	Heterogeneous	HP:0001425
6736	SRY	Displacement of the external urethral meatus	HP:0100627
6736	SRY	Primary amenorrhea	HP:0000786
6736	SRY	Polycystic ovaries	HP:0000147
6736	SRY	Gonadoblastoma	HP:0000150
6736	SRY	Hypoplasia of the vagina	HP:0008726
6736	SRY	Abnormality of male internal genitalia	HP:0000022
6736	SRY	Azoospermia	HP:0000027
6736	SRY	Cryptorchidism	HP:0000028
6736	SRY	Decreased testicular size	HP:0008734
6736	SRY	Hypoplasia of penis	HP:0008736
6736	SRY	Abnormality of the testis	HP:0000035
6736	SRY	Testicular neoplasm	HP:0010788
6736	SRY	Male pseudohermaphroditism	HP:0000037
6736	SRY	Sparse axillary hair	HP:0002215
6736	SRY	Chordee	HP:0000041
6736	SRY	Y-linked inheritance	HP:0001450
6736	SRY	Urogenital sinus anomaly	HP:0100779
6736	SRY	Scrotal hypoplasia	HP:0000046
6736	SRY	Bifid scrotum	HP:0000048
6736	SRY	Perineal hypospadias	HP:0000051
6736	SRY	Microphallus	HP:0030260
6736	SRY	Micropenis	HP:0000054
6736	SRY	Abnormality of female external genitalia	HP:0000055
6736	SRY	Clitoromegaly	HP:0000057
6736	SRY	Ovotestis	HP:0012861
6736	SRY	Ambiguous genitalia	HP:0000062
6736	SRY	Sex-limited autosomal dominant	HP:0001470
6736	SRY	Fused labia minora	HP:0000063
6736	SRY	Sex reversal	HP:0012245
6736	SRY	Autistic behavior	HP:0000729
6736	SRY	Female pseudohermaphroditism	HP:0010458
6736	SRY	True hermaphroditism	HP:0010459
6736	SRY	Gonadal dysgenesis, male	HP:0008668
6736	SRY	Streak ovary	HP:0010464
6736	SRY	Tall stature	HP:0000098
6736	SRY	Streaky metaphyseal sclerosis	HP:0005092
6736	SRY	Tetralogy of Fallot	HP:0001636
6736	SRY	Decreased serum testosterone level	HP:0040171
6736	SRY	Hirsutism	HP:0001007
6736	SRY	Abnormality of the epididymis	HP:0009714
6736	SRY	Hypoplasia of the fallopian tube	HP:0008697
6736	SRY	Absence of secondary sex characteristics	HP:0008187
8287	USP9Y	Y-linked inheritance	HP:0001450
8287	USP9Y	Azoospermia	HP:0000027
1536	CYBB	Urticaria	HP:0001025
1536	CYBB	Negative nitroblue tetrazolium (NBT) reduction test	HP:0003203
1536	CYBB	Recurrent pneumonia	HP:0006532
1536	CYBB	Otitis media	HP:0000388
1536	CYBB	Decreased activity of NADPH oxidase	HP:0003206
1536	CYBB	Autosomal recessive inheritance	HP:0000007
1536	CYBB	Meningitis	HP:0001287
1536	CYBB	Impaired neutrophil killing of staphylococci	HP:0005512
1536	CYBB	Recurrent mycobacterial infections	HP:0011274
1536	CYBB	Hypermelanotic macule	HP:0001034
1536	CYBB	X-linked recessive inheritance	HP:0001419
1536	CYBB	Granulomatosis	HP:0002955
1536	CYBB	Tracheoesophageal fistula	HP:0002575
1536	CYBB	Abnormality of temperature regulation	HP:0004370
1536	CYBB	Lymphadenitis	HP:0002840
1536	CYBB	Recurrent Burkholderia cepacia infections	HP:0002842
1536	CYBB	Lymphadenopathy	HP:0002716
1536	CYBB	Recurrent respiratory infections	HP:0002205
1536	CYBB	Recurrent bacterial skin infections	HP:0005406
1536	CYBB	Absence of bactericidal oxidative 'respiratory burst' in phagocytes	HP:0002723
1536	CYBB	Recurrent Aspergillus infections	HP:0002724
1536	CYBB	Juvenile onset	HP:0003621
1536	CYBB	Recurrent Staphylococcus aureus infections	HP:0002726
1536	CYBB	Liver abscess	HP:0100523
1536	CYBB	Severe recurrent varicella	HP:0005428
1536	CYBB	Recurrent E. coli infections	HP:0002740
1536	CYBB	Inflammatory abnormality of the eye	HP:0100533
1536	CYBB	Recurrent Serratia marcescens infections	HP:0002741
1536	CYBB	Recurrent Klebsiella infections	HP:0002742
1536	CYBB	Deficiency or absence of cytochrome b(-245)	HP:0003514
1536	CYBB	Hepatomegaly	HP:0002240
1536	CYBB	Osteomyelitis due to immunodeficiency	HP:0002755
1536	CYBB	Eczema	HP:0000964
1536	CYBB	Sepsis	HP:0100806
1536	CYBB	Recurrent staphylococcal infections	HP:0007499
1536	CYBB	Splenomegaly	HP:0001744
1536	CYBB	Eczematoid dermatitis	HP:0000976
1536	CYBB	Abnormality of neutrophils	HP:0001874
1536	CYBB	Diarrhea	HP:0002014
1536	CYBB	Cutaneous photosensitivity	HP:0000992
1536	CYBB	Cellulitis due to immunodeficiency	HP:0003553
1536	CYBB	Recurrent aphthous stomatitis	HP:0011107
1536	CYBB	Recurrent sinusitis	HP:0011108
1536	CYBB	Pyloric stenosis	HP:0002021
1536	CYBB	Gingivitis	HP:0000230
1536	CYBB	Rectal abscess	HP:0005224
1536	CYBB	Malabsorption	HP:0002024
1536	CYBB	Skin ulcer	HP:0200042
1536	CYBB	Chronic obstructive pulmonary disease	HP:0006510
1536	CYBB	Mediastinal lymphadenopathy	HP:0100721
1536	CYBB	Sinusitis	HP:0000246
1536	CYBB	Perioral eczema	HP:0011127
1536	CYBB	Hepatic abscesses due to immunodeficiency	HP:0001400
1536	CYBB	Discoid lupus erythematosus	HP:0007417
369	ARAF	Abnormality of metabolism/homeostasis	HP:0001939
369	ARAF	Sarcoma	HP:0100242
369	ARAF	X-linked inheritance	HP:0001417
10682	EBP	Ichthyosis	HP:0008064
10682	EBP	Aplasia/Hypoplasia of the skin	HP:0008065
10682	EBP	Cataract	HP:0000518
10682	EBP	Elevated 8-dehydrocholesterol	HP:0003462
10682	EBP	Congenital ichthyosiform erythroderma	HP:0007431
10682	EBP	Optic atrophy	HP:0000648
10682	EBP	Elevated 8(9)-cholestenol	HP:0003465
10682	EBP	Sparse eyelashes	HP:0000653
10682	EBP	X-linked dominant inheritance	HP:0001423
10682	EBP	Malar flattening	HP:0000272
10682	EBP	Stippled calcification in carpal bones	HP:0004241
10682	EBP	Sensorineural hearing impairment	HP:0000407
10682	EBP	Sparse eyebrow	HP:0000535
10682	EBP	Dandy-Walker malformation	HP:0001305
10682	EBP	Polyhydramnios	HP:0001561
10682	EBP	Cryptorchidism	HP:0000028
10682	EBP	Epicanthus	HP:0000286
10682	EBP	Epiphyseal stippling	HP:0010655
10682	EBP	Postaxial polydactyly	HP:0100259
10682	EBP	Abnormality of the teeth	HP:0000164
10682	EBP	Foot polydactyly	HP:0001829
10682	EBP	Intellectual disability, moderate	HP:0002342
10682	EBP	Hypoplasia of the zygomatic bone	HP:0010669
10682	EBP	Overlapping toe	HP:0001845
10682	EBP	Patellar dislocation	HP:0002999
10682	EBP	Microphthalmia	HP:0000568
10682	EBP	Alopecia	HP:0001596
10682	EBP	Postnatal growth retardation	HP:0008897
10682	EBP	Tarsal stippling	HP:0008131
10682	EBP	Abnormality of the hip bone	HP:0003272
10682	EBP	Edema	HP:0000969
10682	EBP	Asymmetric growth	HP:0100555
10682	EBP	Hemiatrophy	HP:0100556
10682	EBP	Abnormality of the fingernails	HP:0001231
10682	EBP	Flat face	HP:0012368
10682	EBP	2-3 toe syndactyly	HP:0004691
10682	EBP	Abnormality of pelvic girdle bone morphology	HP:0002644
10682	EBP	Short neck	HP:0000470
10682	EBP	Frontal bossing	HP:0002007
10682	EBP	Abnormal joint morphology	HP:0001367
10682	EBP	Tracheal stenosis	HP:0002777
10682	EBP	High palate	HP:0000218
10682	EBP	Scoliosis	HP:0002650
10682	EBP	Talipes	HP:0001883
10682	EBP	Abnormality of hair texture	HP:0010719
10682	EBP	Short stature	HP:0004322
10682	EBP	Microcornea	HP:0000482
10682	EBP	Abnormal hair quantity	HP:0011362
10682	EBP	Limb undergrowth	HP:0009826
10682	EBP	Tracheal calcification	HP:0002787
10682	EBP	Muscular hypotonia	HP:0001252
10682	EBP	Failure to thrive	HP:0001508
10682	EBP	Punctate vertebral calcifications	HP:0008420
10682	EBP	Hearing impairment	HP:0000365
10682	EBP	Downslanted palpebral fissures	HP:0000494
10682	EBP	Concave nasal ridge	HP:0011120
10682	EBP	Bilateral talipes equinovarus	HP:0001776
10682	EBP	Abnormal form of the vertebral bodies	HP:0003312
10682	EBP	Clinodactyly of the 5th finger	HP:0004209
10682	EBP	Variable expressivity	HP:0003828
10682	EBP	Glaucoma	HP:0000501
10682	EBP	Kyphosis	HP:0002808
10682	EBP	Aplasia/Hypoplasia affecting the eye	HP:0008056
10682	EBP	Congenital onset	HP:0003577
10682	EBP	Abnormality of the pinna	HP:0000377
10682	EBP	Hemivertebrae	HP:0002937
10682	EBP	Erythroderma	HP:0001019
10682	EBP	Ptosis	HP:0000508
10682	EBP	Abnormality of the thorax	HP:0000765
10682	EBP	Hydronephrosis	HP:0000126
10682	EBP	Nystagmus	HP:0000639
10084	PQBP1	Joint contracture of the hand	HP:0009473
10084	PQBP1	Skeletal muscle atrophy	HP:0003202
10084	PQBP1	Sparse hair	HP:0008070
10084	PQBP1	Cataract	HP:0000518
10084	PQBP1	Broad columella	HP:0010761
10084	PQBP1	Cerebral atrophy	HP:0002059
10084	PQBP1	X-linked recessive inheritance	HP:0001419
10084	PQBP1	Abnormality of the rib cage	HP:0001547
10084	PQBP1	Macrotia	HP:0000400
10084	PQBP1	Malar flattening	HP:0000272
10084	PQBP1	Sprengel anomaly	HP:0000912
10084	PQBP1	Displacement of the external urethral meatus	HP:0100627
10084	PQBP1	Narrow face	HP:0000275
10084	PQBP1	Long face	HP:0000276
10084	PQBP1	Abnormality of the thumb	HP:0001172
10084	PQBP1	Hemiplegia/hemiparesis	HP:0004374
10084	PQBP1	Sensorineural hearing impairment	HP:0000407
10084	PQBP1	Protruding ear	HP:0000411
10084	PQBP1	Hypermetropia	HP:0000540
10084	PQBP1	Epicanthus	HP:0000286
10084	PQBP1	Bulbous nose	HP:0000414
10084	PQBP1	Decreased testicular size	HP:0008734
10084	PQBP1	Situs inversus totalis	HP:0001696
10084	PQBP1	Narrow mouth	HP:0000160
10084	PQBP1	Abnormality of the testis	HP:0000035
10084	PQBP1	Abdominal situs inversus	HP:0003363
10084	PQBP1	Macrodontia	HP:0001572
10084	PQBP1	Hypoplasia of the zygomatic bone	HP:0010669
10084	PQBP1	Mandibular prognathia	HP:0000303
10084	PQBP1	Hypospadias	HP:0000047
10084	PQBP1	Cleft palate	HP:0000175
10084	PQBP1	Wide nasal bridge	HP:0000431
10084	PQBP1	Diabetes mellitus	HP:0000819
10084	PQBP1	Microphthalmia	HP:0000568
10084	PQBP1	Cognitive impairment	HP:0100543
10084	PQBP1	Short philtrum	HP:0000322
10084	PQBP1	Hyperreflexia	HP:0001347
10084	PQBP1	Triangular face	HP:0000325
10084	PQBP1	Upslanted palpebral fissure	HP:0000582
10084	PQBP1	Nasal speech	HP:0001611
10084	PQBP1	Coloboma	HP:0000589
10084	PQBP1	Phimosis	HP:0001741
10084	PQBP1	Abnormality of calvarial morphology	HP:0002648
10084	PQBP1	Renal hypoplasia	HP:0000089
10084	PQBP1	Sparse lateral eyebrow	HP:0005338
10084	PQBP1	High palate	HP:0000218
10084	PQBP1	Scoliosis	HP:0002650
10084	PQBP1	Micrognathia	HP:0000347
10084	PQBP1	Thin upper lip vermilion	HP:0000219
10084	PQBP1	Ventricular septal defect	HP:0001629
10084	PQBP1	Abnormality of hair texture	HP:0010719
10084	PQBP1	Atria septal defect	HP:0001631
10084	PQBP1	Round ear	HP:0100830
10084	PQBP1	Limitation of joint mobility	HP:0001376
10084	PQBP1	Pes cavus	HP:0001761
10084	PQBP1	Camptodactyly	HP:0012385
10084	PQBP1	Intellectual disability	HP:0001249
10084	PQBP1	Abnormal hair quantity	HP:0011362
10084	PQBP1	Seizures	HP:0001250
10084	PQBP1	Short stature	HP:0004322
10084	PQBP1	Anxiety	HP:0000739
10084	PQBP1	Tetralogy of Fallot	HP:0001636
10084	PQBP1	Iris coloboma	HP:0000612
10084	PQBP1	Decreased body weight	HP:0004325
10084	PQBP1	Strabismus	HP:0000486
10084	PQBP1	Anal atresia	HP:0002023
10084	PQBP1	Aplasia/Hypoplasia of the eyebrow	HP:0100840
10084	PQBP1	Spasticity	HP:0001257
10084	PQBP1	Blindness	HP:0000618
10084	PQBP1	Urogenital fistula	HP:0100589
10084	PQBP1	Hearing impairment	HP:0000365
10084	PQBP1	Clinodactyly of the 5th finger	HP:0004209
10084	PQBP1	Poor suck	HP:0002033
10084	PQBP1	Abnormal nasal morphology	HP:0005105
10084	PQBP1	Brachycephaly	HP:0000248
10084	PQBP1	Narrow foot	HP:0001786
10084	PQBP1	Cupped ear	HP:0000378
10084	PQBP1	Microcephaly	HP:0000252
10084	PQBP1	Hypertonia	HP:0001276
10084	PQBP1	External ear malformation	HP:0008572
10084	PQBP1	Pectus excavatum	HP:0000767
3561	IL2RG	Hypoproteinemia	HP:0003075
3561	IL2RG	Otitis media	HP:0000388
3561	IL2RG	Autosomal recessive inheritance	HP:0000007
3561	IL2RG	Hypoplasia of the thymus	HP:0000778
3561	IL2RG	Chronic oral candidiasis	HP:0009098
3561	IL2RG	Combined immunodeficiency	HP:0005387
3561	IL2RG	X-linked recessive inheritance	HP:0001419
3561	IL2RG	Autoimmunity	HP:0002960
3561	IL2RG	Abnormality of temperature regulation	HP:0004370
3561	IL2RG	Recurrent bronchitis	HP:0002837
3561	IL2RG	Recurrent fungal infections	HP:0002841
3561	IL2RG	Lymphadenopathy	HP:0002716
3561	IL2RG	Recurrent bacterial infections	HP:0002718
3561	IL2RG	Decreased number of CD4+ T cells	HP:0005407
3561	IL2RG	Decreased number of CD8+ T cells	HP:0005415
3561	IL2RG	Thyroiditis	HP:0100646
3561	IL2RG	Pneumonia	HP:0002090
3561	IL2RG	Thickened skin	HP:0001072
3561	IL2RG	Abnormality of the metaphyses	HP:0000944
3561	IL2RG	Hypothyroidism	HP:0000821
3561	IL2RG	Leukocytosis	HP:0001974
3561	IL2RG	Alopecia	HP:0001596
3561	IL2RG	Dry skin	HP:0000958
3561	IL2RG	Hepatomegaly	HP:0002240
3561	IL2RG	Sepsis	HP:0100806
3561	IL2RG	Edema	HP:0000969
3561	IL2RG	Recurrent viral infections	HP:0004429
3561	IL2RG	Severe combined immunodeficiency	HP:0004430
3561	IL2RG	Abnormality of the fingernails	HP:0001231
3561	IL2RG	Splenomegaly	HP:0001744
3561	IL2RG	Agammaglobulinemia	HP:0004432
3561	IL2RG	Thrombocytopenia	HP:0001873
3561	IL2RG	Abnormality of eosinophils	HP:0001879
3561	IL2RG	Eosinophilia	HP:0001880
3561	IL2RG	IgG deficiency	HP:0004315
3561	IL2RG	Skin rash	HP:0000988
3561	IL2RG	Pruritus	HP:0000989
3561	IL2RG	Diarrhea	HP:0002014
3561	IL2RG	B lymphocytopenia	HP:0010976
3561	IL2RG	Failure to thrive	HP:0001508
3561	IL2RG	Nephrotic syndrome	HP:0000100
3561	IL2RG	Malabsorption	HP:0002024
3561	IL2RG	Lymphoma	HP:0002665
3561	IL2RG	Aplasia/Hypoplasia of the eyebrow	HP:0100840
3561	IL2RG	Recurrent bacterial meningitis	HP:0007274
3561	IL2RG	Chronic diarrhea	HP:0002028
3561	IL2RG	Anemia	HP:0001903
3561	IL2RG	Severe B lymphocytopenia	HP:0005365
3561	IL2RG	Sinusitis	HP:0000246
3561	IL2RG	Erythroderma	HP:0001019
5230	PGK1	Intellectual disability	HP:0001249
5230	PGK1	Rhabdomyolysis	HP:0003201
5230	PGK1	Seizures	HP:0001250
5230	PGK1	Ataxia	HP:0001251
5230	PGK1	Reticulocytosis	HP:0001923
5230	PGK1	Phenotypic variability	HP:0003812
5230	PGK1	Emotional lability	HP:0000712
5230	PGK1	X-linked recessive inheritance	HP:0001419
5230	PGK1	Retinal dystrophy	HP:0000556
5230	PGK1	Delayed speech and language development	HP:0000750
5230	PGK1	Global developmental delay	HP:0001263
5230	PGK1	Exercise-induced myoglobinuria	HP:0008305
5230	PGK1	Renal insufficiency	HP:0000083
5230	PGK1	Hemolytic anemia	HP:0001878
5230	PGK1	Exercise intolerance	HP:0003546
5230	PGK1	Migraine	HP:0002076
5230	PGK1	Visual loss	HP:0000572
5230	PGK1	Exercise-induced muscle cramps	HP:0003710
5230	PGK1	Myopathy	HP:0003198
27286	SRPX2	Autosomal dominant inheritance	HP:0000006
27286	SRPX2	Autosomal recessive inheritance	HP:0000007
27286	SRPX2	EEG with centrotemporal focal spike waves	HP:0012557
27286	SRPX2	Aphasia	HP:0002381
27286	SRPX2	Polymicrogyria	HP:0002126
27286	SRPX2	X-linked dominant inheritance	HP:0001423
27286	SRPX2	Generalized tonic-clonic seizures	HP:0002069
27286	SRPX2	Dyslexia	HP:0010522
27286	SRPX2	Speech apraxia	HP:0011098
27286	SRPX2	Agnosia	HP:0010524
27286	SRPX2	Language impairment	HP:0002463
27286	SRPX2	Sporadic	HP:0003745
27286	SRPX2	Intellectual disability	HP:0001249
27286	SRPX2	Seizures	HP:0001250
27286	SRPX2	Atypical absence seizures	HP:0007270
27286	SRPX2	Bilateral convulsive seizures	HP:0007334
27286	SRPX2	Intellectual disability, mild	HP:0001256
27286	SRPX2	Perisylvian polymicrogyria	HP:0012650
27286	SRPX2	Attention deficit hyperactivity disorder	HP:0007018
27286	SRPX2	Delayed speech and language development	HP:0000750
27286	SRPX2	Global developmental delay	HP:0001263
27286	SRPX2	Pseudobulbar paralysis	HP:0007024
27286	SRPX2	Variable expressivity	HP:0003828
27286	SRPX2	Incomplete penetrance	HP:0003829
27286	SRPX2	Dysphasia	HP:0002357
27286	SRPX2	Frontoparietal polymicrogyria	HP:0007095
27286	SRPX2	Cognitive impairment	HP:0100543
27286	SRPX2	Focal seizures	HP:0007359
186	AGTR2	Macrocephaly	HP:0000256
186	AGTR2	Drooling	HP:0002307
186	AGTR2	Narrow chest	HP:0000774
186	AGTR2	X-linked inheritance	HP:0001417
186	AGTR2	X-linked recessive inheritance	HP:0001419
186	AGTR2	Dolichocephaly	HP:0000268
186	AGTR2	X-linked dominant inheritance	HP:0001423
186	AGTR2	Macrotia	HP:0000400
186	AGTR2	Delayed gross motor development	HP:0002194
186	AGTR2	Long face	HP:0000276
186	AGTR2	Sensorineural hearing impairment	HP:0000407
186	AGTR2	Synophrys	HP:0000664
186	AGTR2	Decreased testicular size	HP:0008734
186	AGTR2	Depressed nasal bridge	HP:0005280
186	AGTR2	Poor speech	HP:0002465
186	AGTR2	Enuresis	HP:0000805
186	AGTR2	Dental crowding	HP:0000678
186	AGTR2	Intellectual disability, moderate	HP:0002342
186	AGTR2	Broad thumb	HP:0011304
186	AGTR2	Long foot	HP:0001833
186	AGTR2	Mandibular prognathia	HP:0000303
186	AGTR2	Thick lower lip vermilion	HP:0000179
186	AGTR2	Tented upper lip vermilion	HP:0010804
186	AGTR2	Uplifted earlobe	HP:0009909
186	AGTR2	Macroorchidism	HP:0000053
186	AGTR2	Hypertelorism	HP:0000316
186	AGTR2	Cognitive impairment	HP:0100543
186	AGTR2	Kyphoscoliosis	HP:0002751
186	AGTR2	Absent speech	HP:0001344
186	AGTR2	Open mouth	HP:0000194
186	AGTR2	Behavioral abnormality	HP:0000708
186	AGTR2	Psychosis	HP:0000709
186	AGTR2	Blepharophimosis	HP:0000581
186	AGTR2	Upslanted palpebral fissure	HP:0000582
186	AGTR2	Broad nasal tip	HP:0000455
186	AGTR2	Agitation	HP:0000713
186	AGTR2	Generalized myoclonic seizures	HP:0002123
186	AGTR2	Autism	HP:0000717
186	AGTR2	Aggressive behavior	HP:0000718
186	AGTR2	Anteverted nares	HP:0000463
186	AGTR2	Abnormal facial shape	HP:0001999
186	AGTR2	Flat face	HP:0012368
186	AGTR2	Prominent forehead	HP:0011220
186	AGTR2	High palate	HP:0000218
186	AGTR2	Thin upper lip vermilion	HP:0000219
186	AGTR2	Stereotypic behavior	HP:0000733
186	AGTR2	Short attention span	HP:0000736
186	AGTR2	Intellectual disability	HP:0001249
186	AGTR2	Seizures	HP:0001250
186	AGTR2	Short stature	HP:0004322
186	AGTR2	Anxiety	HP:0000739
186	AGTR2	Muscular hypotonia	HP:0001252
186	AGTR2	Joint hypermobility	HP:0001382
186	AGTR2	Strabismus	HP:0000486
186	AGTR2	Intellectual disability, mild	HP:0001256
186	AGTR2	Abnormality of the distal phalanx of finger	HP:0009832
186	AGTR2	Delayed speech and language development	HP:0000750
186	AGTR2	Small for gestational age	HP:0001518
186	AGTR2	Global developmental delay	HP:0001263
186	AGTR2	Hyperactivity	HP:0000752
186	AGTR2	Variable expressivity	HP:0003828
186	AGTR2	Motor delay	HP:0001270
186	AGTR2	Severe Myopia	HP:0011003
186	AGTR2	Microcephaly	HP:0000252
186	AGTR2	Short nose	HP:0003196
29071	C1GALT1C1	Autoimmunity	HP:0002960
29071	C1GALT1C1	Abnormality of erythrocytes	HP:0001877
126792	B3GALT6	Macrocephaly	HP:0000256
126792	B3GALT6	Short femoral neck	HP:0100864
126792	B3GALT6	Soft, doughy skin	HP:0001027
126792	B3GALT6	Narrow chest	HP:0000774
126792	B3GALT6	Fragile skin	HP:0001030
126792	B3GALT6	Autosomal recessive inheritance	HP:0000007
126792	B3GALT6	Flat midface	HP:0040199
126792	B3GALT6	Short nail	HP:0001799
126792	B3GALT6	Proptosis	HP:0000520
126792	B3GALT6	Dislocated radial head	HP:0003083
126792	B3GALT6	Hip dislocation	HP:0002827
126792	B3GALT6	Long toe	HP:0010511
126792	B3GALT6	Malar flattening	HP:0000272
126792	B3GALT6	Small face	HP:0000274
126792	B3GALT6	Cryptorchidism	HP:0000028
126792	B3GALT6	Slender long bone	HP:0003100
126792	B3GALT6	Epicanthus	HP:0000286
126792	B3GALT6	Hallux valgus	HP:0001822
126792	B3GALT6	Myopia	HP:0000545
126792	B3GALT6	Short toe	HP:0001831
126792	B3GALT6	Genu valgum	HP:0002857
126792	B3GALT6	Slender toe	HP:0011308
126792	B3GALT6	Oval face	HP:0000300
126792	B3GALT6	Palmoplantar cutis gyrata	HP:0007469
126792	B3GALT6	Metatarsus adductus	HP:0001840
126792	B3GALT6	Atrophic scars	HP:0001075
126792	B3GALT6	Flared iliac wings	HP:0002869
126792	B3GALT6	Paraplegia	HP:0010550
126792	B3GALT6	Ectopia lentis	HP:0001083
126792	B3GALT6	Alopecia	HP:0001596
126792	B3GALT6	Short metacarpal	HP:0010049
126792	B3GALT6	Prematurely aged appearance	HP:0007495
126792	B3GALT6	Congenital myopia	HP:0008012
126792	B3GALT6	Long upper lip	HP:0011341
126792	B3GALT6	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
126792	B3GALT6	Flat face	HP:0012368
126792	B3GALT6	Blue sclerae	HP:0000592
126792	B3GALT6	Long philtrum	HP:0000343
126792	B3GALT6	Scoliosis	HP:0002650
126792	B3GALT6	Flexion contracture	HP:0001371
126792	B3GALT6	Spondyloepimetaphyseal dysplasia	HP:0002651
126792	B3GALT6	Hip Subluxation	HP:0030043
126792	B3GALT6	Micrognathia	HP:0000347
126792	B3GALT6	Talipes	HP:0001883
126792	B3GALT6	Skeletal dysplasia	HP:0002652
126792	B3GALT6	Ventricular septal defect	HP:0001629
126792	B3GALT6	Atria septal defect	HP:0001631
126792	B3GALT6	Joint hypermobility	HP:0001382
126792	B3GALT6	Abnormality of the pulmonary valve	HP:0001641
126792	B3GALT6	Joint laxity	HP:0001388
126792	B3GALT6	Broad distal phalanx of finger	HP:0009836
126792	B3GALT6	Abnormality of the aortic valve	HP:0001646
126792	B3GALT6	11 pairs of ribs	HP:0000878
126792	B3GALT6	Bicuspid aortic valve	HP:0001647
126792	B3GALT6	Coxa valga	HP:0002673
126792	B3GALT6	Large iliac wings	HP:0008818
126792	B3GALT6	Mitral regurgitation	HP:0001653
126792	B3GALT6	Cupped ribs	HP:0000887
126792	B3GALT6	Hypoplastic iliac body	HP:0008824
126792	B3GALT6	Delayed proximal femoral epiphyseal ossification	HP:0008828
126792	B3GALT6	Short clavicles	HP:0000894
126792	B3GALT6	Spinal cord compression	HP:0002176
126792	B3GALT6	Absent earlobe	HP:0000387
126792	B3GALT6	Brachydactyly syndrome	HP:0001156
126792	B3GALT6	Sparse hair	HP:0008070
126792	B3GALT6	Abnormality of the cardiac septa	HP:0001671
126792	B3GALT6	Flaring of rib cage	HP:0000904
126792	B3GALT6	Advanced ossification of carpal bones	HP:0004233
126792	B3GALT6	Arachnodactyly	HP:0001166
126792	B3GALT6	Radioulnar synostosis	HP:0002974
126792	B3GALT6	Platyspondyly	HP:0000926
126792	B3GALT6	Narrow mouth	HP:0000160
126792	B3GALT6	Sparse scalp hair	HP:0002209
126792	B3GALT6	Abnormality of adipose tissue	HP:0009124
126792	B3GALT6	Micromelia	HP:0002983
126792	B3GALT6	Exostoses	HP:0100777
126792	B3GALT6	Osteopenia	HP:0000938
126792	B3GALT6	Radial bowing	HP:0002986
126792	B3GALT6	Osteoporosis	HP:0000939
126792	B3GALT6	Wide nasal bridge	HP:0000431
126792	B3GALT6	Cleft palate	HP:0000175
126792	B3GALT6	Abnormality of the metaphyses	HP:0000944
126792	B3GALT6	Severe short stature	HP:0003510
126792	B3GALT6	Single transverse palmar crease	HP:0000954
126792	B3GALT6	Cognitive impairment	HP:0100543
126792	B3GALT6	Kyphoscoliosis	HP:0002751
126792	B3GALT6	Bifid uvula	HP:0000193
126792	B3GALT6	Thin skin	HP:0000963
126792	B3GALT6	Pathologic fracture	HP:0002756
126792	B3GALT6	Flared metaphysis	HP:0003015
126792	B3GALT6	Aganglionic megacolon	HP:0002251
126792	B3GALT6	Testicular torsion	HP:0100813
126792	B3GALT6	Cutis laxa	HP:0000973
126792	B3GALT6	Hyperextensible skin	HP:0000974
126792	B3GALT6	Abnormal facial shape	HP:0001999
126792	B3GALT6	Short long bone	HP:0003026
126792	B3GALT6	Prominent forehead	HP:0011220
126792	B3GALT6	Short neck	HP:0000470
126792	B3GALT6	Abnormal vertebral ossification	HP:0100569
126792	B3GALT6	High palate	HP:0000218
126792	B3GALT6	Atypical scarring of skin	HP:0000987
126792	B3GALT6	Short stature	HP:0004322
126792	B3GALT6	Elbow dislocation	HP:0003042
126792	B3GALT6	Talipes equinovarus	HP:0001762
126792	B3GALT6	Pes planus	HP:0001763
126792	B3GALT6	Muscular hypotonia	HP:0001252
126792	B3GALT6	Failure to thrive	HP:0001508
126792	B3GALT6	Ovoid vertebral bodies	HP:0003300
126792	B3GALT6	Irregular vertebral endplates	HP:0003301
126792	B3GALT6	Decreased body weight	HP:0004325
126792	B3GALT6	Gingivitis	HP:0000230
126792	B3GALT6	Carpal synostosis	HP:0009702
126792	B3GALT6	Abnormality of skin pigmentation	HP:0001000
126792	B3GALT6	Radial head subluxation	HP:0003048
126792	B3GALT6	Hyperlordosis	HP:0003307
126792	B3GALT6	Global developmental delay	HP:0001263
126792	B3GALT6	Kyphosis	HP:0002808
126792	B3GALT6	Telecanthus	HP:0000506
126792	B3GALT6	Abnormality of bone mineral density	HP:0004348
126792	B3GALT6	Reduced bone mineral density	HP:0004349
126792	B3GALT6	Pectus excavatum	HP:0000767
64218	SEMA4A	Abnormal electroretinogram	HP:0000512
64218	SEMA4A	Autosomal dominant inheritance	HP:0000006
64218	SEMA4A	Cataract	HP:0000518
64218	SEMA4A	Autosomal recessive inheritance	HP:0000007
64218	SEMA4A	Undetectable light- and dark-adapted electroretinogram	HP:0007688
64218	SEMA4A	Infantile onset	HP:0003593
64218	SEMA4A	Pendular nystagmus	HP:0012043
64218	SEMA4A	Retinal flecks	HP:0012045
64218	SEMA4A	Peripapillary chorioretinal atrophy	HP:0007950
64218	SEMA4A	Progressive visual loss	HP:0000529
64218	SEMA4A	Chorioretinal atrophy	HP:0000533
64218	SEMA4A	Abnormality of retinal pigmentation	HP:0007703
64218	SEMA4A	Hypermetropia	HP:0000540
64218	SEMA4A	Retinal detachment	HP:0000541
64218	SEMA4A	Optic disc pallor	HP:0000543
64218	SEMA4A	Hypoplasia of penis	HP:0008736
64218	SEMA4A	Myopia	HP:0000545
64218	SEMA4A	Retinal degeneration	HP:0000546
64218	SEMA4A	Abnormality of the testis	HP:0000035
64218	SEMA4A	Cone/cone-rod dystrophy	HP:0000548
64218	SEMA4A	Juvenile onset	HP:0003621
64218	SEMA4A	Undetectable electroretinogram	HP:0000550
64218	SEMA4A	Abnormality of color vision	HP:0000551
64218	SEMA4A	Tritanomaly	HP:0000552
64218	SEMA4A	Retinal pigment epithelial atrophy	HP:0007722
64218	SEMA4A	Retinal dystrophy	HP:0000556
64218	SEMA4A	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave	HP:0007984
64218	SEMA4A	Keratoconus	HP:0000563
64218	SEMA4A	Progressive visual field defects	HP:0007987
64218	SEMA4A	Bone spicule pigmentation of the retina	HP:0007737
64218	SEMA4A	Peripheral visual field loss	HP:0007994
64218	SEMA4A	Visual loss	HP:0000572
64218	SEMA4A	Scotoma	HP:0000575
64218	SEMA4A	Foveal hyperpigmentation	HP:0008001
64218	SEMA4A	Abnormality of macular pigmentation	HP:0008002
64218	SEMA4A	Hyperreflexia	HP:0001347
64218	SEMA4A	Pigmentary retinopathy	HP:0000580
64218	SEMA4A	Hyperinsulinemia	HP:0000842
64218	SEMA4A	Abnormality of the optic nerve	HP:0000587
64218	SEMA4A	Fundus atrophy	HP:0001099
64218	SEMA4A	Decreased corneal thickness	HP:0100689
64218	SEMA4A	Retinal atrophy	HP:0001105
64218	SEMA4A	Progressive cone degeneration	HP:0008020
64218	SEMA4A	Ophthalmoparesis	HP:0000597
64218	SEMA4A	Abnormality of the ear	HP:0000598
64218	SEMA4A	Type II diabetes mellitus	HP:0005978
64218	SEMA4A	Central scotoma	HP:0000603
64218	SEMA4A	Posterior polar cataract	HP:0001115
64218	SEMA4A	Cystoid macular degeneration	HP:0008028
64218	SEMA4A	Macular degeneration	HP:0000608
64218	SEMA4A	Visual field defect	HP:0001123
64218	SEMA4A	Photophobia	HP:0000613
64218	SEMA4A	Blindness	HP:0000618
64218	SEMA4A	Posterior subcapsular cataract	HP:0007787
64218	SEMA4A	Retinal arteriolar constriction	HP:0008043
64218	SEMA4A	Constriction of peripheral visual field	HP:0001133
64218	SEMA4A	Abnormality of the retinal vasculature	HP:0008046
64218	SEMA4A	Blurred vision	HP:0000622
64218	SEMA4A	Macular edema	HP:0040049
64218	SEMA4A	Severe visual impairment	HP:0001141
64218	SEMA4A	Pigmentary retinal degeneration	HP:0001146
64218	SEMA4A	Macular scarring	HP:0200056
64218	SEMA4A	Nystagmus	HP:0000639
64218	SEMA4A	Red-green dyschromatopsia	HP:0000642
64218	SEMA4A	Chorioretinal degeneration	HP:0200065
64218	SEMA4A	Abnormal light- and dark-adapted electroretinogram	HP:0008323
64218	SEMA4A	Peripheral retinal atrophy	HP:0200070
64218	SEMA4A	Hypogonadism	HP:0000135
64218	SEMA4A	Optic atrophy	HP:0000648
64218	SEMA4A	X-linked inheritance	HP:0001417
64218	SEMA4A	X-linked recessive inheritance	HP:0001419
64218	SEMA4A	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
64218	SEMA4A	Abnormality of metabolism/homeostasis	HP:0001939
64218	SEMA4A	Conductive hearing impairment	HP:0000405
64218	SEMA4A	Nyctalopia	HP:0000662
64218	SEMA4A	Adult-onset night blindness	HP:0007830
64218	SEMA4A	Sensorineural hearing impairment	HP:0000407
64218	SEMA4A	Recurrent respiratory infections	HP:0002205
64218	SEMA4A	Situs inversus totalis	HP:0001696
64218	SEMA4A	Postaxial polydactyly	HP:0100259
64218	SEMA4A	Attenuation of retinal blood vessels	HP:0007843
64218	SEMA4A	Wide nasal bridge	HP:0000431
64218	SEMA4A	Cognitive impairment	HP:0100543
64218	SEMA4A	Congenital blindness	HP:0007875
64218	SEMA4A	Increased lacrimation	HP:0009926
64218	SEMA4A	Childhood onset	HP:0011463
64218	SEMA4A	Anteverted nares	HP:0000463
64218	SEMA4A	Pallor	HP:0000980
64218	SEMA4A	Hypopigmentation of the fundus	HP:0007894
64218	SEMA4A	Atypical scarring of skin	HP:0000987
64218	SEMA4A	Falls	HP:0002527
64218	SEMA4A	Intellectual disability	HP:0001249
64218	SEMA4A	Astigmatism	HP:0000483
64218	SEMA4A	Strabismus	HP:0000486
64218	SEMA4A	Immotile cilia	HP:0012263
64218	SEMA4A	Abnormality of skin pigmentation	HP:0001000
64218	SEMA4A	Macular atrophy	HP:0007401
64218	SEMA4A	Obesity	HP:0001513
64218	SEMA4A	Reduced visual acuity	HP:0007663
64218	SEMA4A	Bull's eye maculopathy	HP:0011504
64218	SEMA4A	Cystoid macular edema	HP:0011505
64218	SEMA4A	Slow decrease in visual acuity	HP:0007924
64218	SEMA4A	Glaucoma	HP:0000501
64218	SEMA4A	Incomplete penetrance	HP:0003829
64218	SEMA4A	Visual impairment	HP:0000505
64218	SEMA4A	Severe Myopia	HP:0011003
64218	SEMA4A	Rod-cone dystrophy	HP:0000510
255928	SYT14	Limb ataxia	HP:0002070
255928	SYT14	Autosomal recessive inheritance	HP:0000007
255928	SYT14	Cerebellar atrophy	HP:0001272
255928	SYT14	Impaired smooth pursuit	HP:0007772
255928	SYT14	Dysarthria	HP:0001260
255928	SYT14	Slow progression	HP:0003677
255928	SYT14	Truncal ataxia	HP:0002078
255928	SYT14	Nystagmus	HP:0000639
255928	SYT14	Dysphagia	HP:0002015
55532	SLC30A10	Hepatomegaly	HP:0002240
55532	SLC30A10	Decreased liver function	HP:0001410
55532	SLC30A10	Sensorimotor neuropathy	HP:0007141
55532	SLC30A10	Autosomal recessive inheritance	HP:0000007
55532	SLC30A10	Spastic paraparesis	HP:0002313
55532	SLC30A10	Dysarthria	HP:0001260
55532	SLC30A10	Polycythemia	HP:0001901
55532	SLC30A10	Rigidity	HP:0002063
55532	SLC30A10	Cirrhosis	HP:0001394
55532	SLC30A10	Bradykinesia	HP:0002067
55532	SLC30A10	Parkinsonism	HP:0001300
55532	SLC30A10	Variable expressivity	HP:0003828
55532	SLC30A10	Dystonia	HP:0001332
55532	SLC30A10	Tremor	HP:0001337
55532	SLC30A10	Postural instability	HP:0002172
55532	SLC30A10	Elevated hepatic transaminases	HP:0002910
1130	LYST	Neurodegeneration	HP:0002180
1130	LYST	Autosomal recessive inheritance	HP:0000007
1130	LYST	Incoordination	HP:0002311
1130	LYST	Gait disturbance	HP:0001288
1130	LYST	Abnormality of coagulation	HP:0001928
1130	LYST	Generalized hyperpigmentation	HP:0007440
1130	LYST	Abnormality of temperature regulation	HP:0004370
1130	LYST	Abnormality of extrapyramidal motor function	HP:0002071
1130	LYST	Lymphadenopathy	HP:0002716
1130	LYST	Recurrent respiratory infections	HP:0002205
1130	LYST	Reduced tendon reflexes	HP:0001315
1130	LYST	Epistaxis	HP:0000421
1130	LYST	Cranial nerve paralysis	HP:0006824
1130	LYST	Iris hypopigmentation	HP:0007730
1130	LYST	Recurrent systemic pyogenic infections	HP:0005429
1130	LYST	Abnormality of movement	HP:0100022
1130	LYST	Jaundice	HP:0000952
1130	LYST	Tremor	HP:0001337
1130	LYST	Cognitive impairment	HP:0100543
1130	LYST	Gastrointestinal hemorrhage	HP:0002239
1130	LYST	Periodontitis	HP:0000704
1130	LYST	Aplasia/Hypoplasia of the cerebellum	HP:0007360
1130	LYST	Hepatomegaly	HP:0002240
1130	LYST	Foot dorsiflexor weakness	HP:0009027
1130	LYST	Developmental regression	HP:0002376
1130	LYST	Paresthesia	HP:0003401
1130	LYST	Splenomegaly	HP:0001744
1130	LYST	Macular hypoplasia	HP:0001104
1130	LYST	Thrombocytopenia	HP:0001873
1130	LYST	Abnormality of neutrophils	HP:0001874
1130	LYST	Bruising susceptibility	HP:0000978
1130	LYST	Ocular albinism	HP:0001107
1130	LYST	Giant melanosomes in melanocytes	HP:0005592
1130	LYST	Generalized hypopigmentation	HP:0007513
1130	LYST	Leukopenia	HP:0001882
1130	LYST	Progressive peripheral neuropathy	HP:0007133
1130	LYST	Hypopigmentation of hair	HP:0005599
1130	LYST	Gingival bleeding	HP:0000225
1130	LYST	Intellectual disability	HP:0001249
1130	LYST	Seizures	HP:0001250
1130	LYST	Photophobia	HP:0000613
1130	LYST	Strabismus	HP:0000486
1130	LYST	Gingivitis	HP:0000230
1130	LYST	Peripheral neuropathy	HP:0009830
1130	LYST	Recurrent cutaneous abscess formation	HP:0100838
1130	LYST	Skin ulcer	HP:0200042
1130	LYST	Anemia	HP:0001903
1130	LYST	Reduced visual acuity	HP:0007663
1130	LYST	Hyporeflexia	HP:0001265
1130	LYST	Hypopigmentation of the skin	HP:0001010
1130	LYST	Visual impairment	HP:0000505
1130	LYST	Decreased nerve conduction velocity	HP:0000762
1130	LYST	Hypertonia	HP:0001276
1130	LYST	Nystagmus	HP:0000639
6496	SIX3	Duodenal stenosis	HP:0100867
6496	SIX3	Anterior pituitary agenesis	HP:0010626
6496	SIX3	Autosomal dominant inheritance	HP:0000006
6496	SIX3	Schizencephaly	HP:0010636
6496	SIX3	Anophthalmia	HP:0000528
6496	SIX3	Malar flattening	HP:0000272
6496	SIX3	Heterogeneous	HP:0001425
6496	SIX3	Midnasal stenosis	HP:0010644
6496	SIX3	Prominent median palatal raphe	HP:0002708
6496	SIX3	Hemiplegia/hemiparesis	HP:0004374
6496	SIX3	Hypoplasia of midface	HP:0011800
6496	SIX3	Absent nasal septal cartilage	HP:0005273
6496	SIX3	Hypoplasia of penis	HP:0008736
6496	SIX3	Sporadic	HP:0003745
6496	SIX3	Cerebellar hypoplasia	HP:0001321
6496	SIX3	Single median maxillary incisor	HP:0006315
6496	SIX3	Cleft palate	HP:0000175
6496	SIX3	Specific learning disability	HP:0001328
6496	SIX3	Submucous cleft hard palate	HP:0000176
6496	SIX3	EEG abnormality	HP:0002353
6496	SIX3	Asthma	HP:0002099
6496	SIX3	Tented upper lip vermilion	HP:0010804
6496	SIX3	Torus palatinus	HP:0100789
6496	SIX3	Hypothyroidism	HP:0000821
6496	SIX3	Median cleft lip and palate	HP:0008501
6496	SIX3	Abnormality of the skin	HP:0000951
6496	SIX3	Microphthalmia	HP:0000568
6496	SIX3	Growth hormone deficiency	HP:0000824
6496	SIX3	Cyclopia	HP:0009914
6496	SIX3	Cognitive impairment	HP:0100543
6496	SIX3	Ambiguous genitalia	HP:0000062
6496	SIX3	Narrow nasal bridge	HP:0000446
6496	SIX3	Anterior hypopituitarism	HP:0000830
6496	SIX3	Bifid uvula	HP:0000193
6496	SIX3	Short philtrum	HP:0000322
6496	SIX3	Adrenal hypoplasia	HP:0000835
6496	SIX3	Choanal atresia	HP:0000453
6496	SIX3	Aplasia of the nose	HP:0009927
6496	SIX3	Maternal diabetes	HP:0009800
6496	SIX3	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
6496	SIX3	Anosmia	HP:0000458
6496	SIX3	Abnormality of the nasopharynx	HP:0001739
6496	SIX3	Cleft upper lip	HP:0000204
6496	SIX3	Coloboma	HP:0000589
6496	SIX3	Anteverted nares	HP:0000463
6496	SIX3	Holoprosencephaly	HP:0001360
6496	SIX3	Porencephaly	HP:0002132
6496	SIX3	Premature birth	HP:0001622
6496	SIX3	Hypotelorism	HP:0000601
6496	SIX3	Scoliosis	HP:0002650
6496	SIX3	Vertebral segmentation defect	HP:0003422
6496	SIX3	Intellectual disability	HP:0001249
6496	SIX3	Seizures	HP:0001250
6496	SIX3	Short stature	HP:0004322
6496	SIX3	Constipation	HP:0002019
6496	SIX3	Tetralogy of Fallot	HP:0001636
6496	SIX3	Abnormality of chromosome segregation	HP:0002916
6496	SIX3	Iris coloboma	HP:0000612
6496	SIX3	Muscular hypotonia	HP:0001252
6496	SIX3	Strabismus	HP:0000486
6496	SIX3	Renal hypoplasia/aplasia	HP:0008678
6496	SIX3	Intrauterine growth retardation	HP:0001511
6496	SIX3	Intellectual disability, mild	HP:0001256
6496	SIX3	Diabetes insipidus	HP:0000873
6496	SIX3	Global developmental delay	HP:0001263
6496	SIX3	Variable expressivity	HP:0003828
6496	SIX3	Incomplete penetrance	HP:0003829
6496	SIX3	Agenesis of corpus callosum	HP:0001274
6496	SIX3	Hypertonia	HP:0001276
6496	SIX3	Microcephaly	HP:0000252
6496	SIX3	Short nose	HP:0003196
10617	STAMBP	Small nail	HP:0001792
10617	STAMBP	Right ventricular hypertrophy	HP:0001667
10617	STAMBP	Brachydactyly syndrome	HP:0001156
10617	STAMBP	Clinodactyly	HP:0030084
10617	STAMBP	Spastic tetraparesis	HP:0001285
10617	STAMBP	Hypoplasia of the maxilla	HP:0000327
10617	STAMBP	Autosomal recessive inheritance	HP:0000007
10617	STAMBP	Optic atrophy	HP:0000648
10617	STAMBP	Cerebral atrophy	HP:0002059
10617	STAMBP	Vesicoureteral reflux	HP:0000076
10617	STAMBP	Severe global developmental delay	HP:0011344
10617	STAMBP	Sloping forehead	HP:0000340
10617	STAMBP	Short distal phalanx of finger	HP:0009882
10617	STAMBP	Ventricular septal defect	HP:0001629
10617	STAMBP	Hypoplasia of the corpus callosum	HP:0002079
10617	STAMBP	Delayed myelination	HP:0012448
10617	STAMBP	Abnormal hair whorl	HP:0010721
10617	STAMBP	Seizures	HP:0001250
10617	STAMBP	Short stature	HP:0004322
10617	STAMBP	Muscular hypotonia	HP:0001252
10617	STAMBP	Failure to thrive	HP:0001508
10617	STAMBP	Hearing impairment	HP:0000365
10617	STAMBP	Small for gestational age	HP:0001518
10617	STAMBP	Cleft palate	HP:0000175
10617	STAMBP	Low-set ears	HP:0000369
10617	STAMBP	Patent foramen ovale	HP:0001655
10617	STAMBP	Myoclonus	HP:0001336
10617	STAMBP	Congenital onset	HP:0003577
10617	STAMBP	Ptosis	HP:0000508
10617	STAMBP	Short nose	HP:0003196
10617	STAMBP	Hypertelorism	HP:0000316
10617	STAMBP	Wide nose	HP:0000445
10617	STAMBP	Progressive microcephaly	HP:0000253
1123	CHN1	Duane anomaly	HP:0009921
1123	CHN1	Aplasia/Hypoplasia of the thumb	HP:0009601
1123	CHN1	Brachydactyly syndrome	HP:0001156
1123	CHN1	Blepharophimosis	HP:0000581
1123	CHN1	Autosomal dominant inheritance	HP:0000006
1123	CHN1	Amblyopia	HP:0000646
1123	CHN1	Optic atrophy	HP:0000648
1123	CHN1	Heterochromia iridis	HP:0001100
1123	CHN1	Anteverted nares	HP:0000463
1123	CHN1	Palpebral fissure narrowing on adduction	HP:0000661
1123	CHN1	Ophthalmoparesis	HP:0000597
1123	CHN1	Short neck	HP:0000470
1123	CHN1	Micrognathia	HP:0000347
1123	CHN1	Talipes	HP:0001883
1123	CHN1	Impaired ocular adduction	HP:0000542
1123	CHN1	Seizures	HP:0001250
1123	CHN1	Aplasia/Hypoplasia of the radius	HP:0006501
1123	CHN1	Strabismus	HP:0000486
1123	CHN1	Congenital strabismus	HP:0000487
1123	CHN1	Abnormality of the pupil	HP:0000615
1123	CHN1	Deeply set eye	HP:0000490
1123	CHN1	Impaired convergence	HP:0000619
1123	CHN1	Hearing impairment	HP:0000365
1123	CHN1	Cleft palate	HP:0000175
1123	CHN1	Wide nasal bridge	HP:0000431
1123	CHN1	Abnormal form of the vertebral bodies	HP:0003312
1123	CHN1	Aplasia/Hypoplasia of the iris	HP:0008053
1123	CHN1	Chorioretinal coloboma	HP:0000567
1123	CHN1	Visual impairment	HP:0000505
1123	CHN1	Impaired ocular abduction	HP:0000634
1123	CHN1	External ear malformation	HP:0008572
1123	CHN1	Microcephaly	HP:0000252
1123	CHN1	Ptosis	HP:0000508
1123	CHN1	Cognitive impairment	HP:0100543
1123	CHN1	Abnormal localization of kidney	HP:0100542
1123	CHN1	Nystagmus	HP:0000639
7341	SUMO1	Unilateral cleft lip	HP:0100333
7341	SUMO1	Unilateral cleft palate	HP:0100334
1421	CRYGD	Pulverulent Cataract	HP:0010693
1421	CRYGD	Cataract	HP:0000518
1421	CRYGD	Autosomal dominant inheritance	HP:0000006
1421	CRYGD	Amblyopia	HP:0000646
1421	CRYGD	Autosomal recessive inheritance	HP:0000007
1421	CRYGD	Congenital cataract	HP:0000519
1421	CRYGD	Sutural cataract	HP:0010695
1421	CRYGD	Subcapsular cataract	HP:0000523
1421	CRYGD	Opacification of the corneal stroma	HP:0007759
1421	CRYGD	Macular hypoplasia	HP:0001104
1421	CRYGD	Congenital nuclear cataract	HP:0008024
1421	CRYGD	Progressive cataract	HP:0007834
1421	CRYGD	Retinal detachment	HP:0000541
1421	CRYGD	Myopia	HP:0000545
1421	CRYGD	Microcornea	HP:0000482
1421	CRYGD	Iris coloboma	HP:0000612
1421	CRYGD	Cortical pulverulent cataract	HP:0007780
1421	CRYGD	Photophobia	HP:0000613
1421	CRYGD	Strabismus	HP:0000486
1421	CRYGD	Cerulean cataract	HP:0007976
1421	CRYGD	Diffuse nuclear cataract	HP:0007657
1421	CRYGD	Corneal dystrophy	HP:0001131
1421	CRYGD	Nuclear cataract	HP:0100018
1421	CRYGD	Glaucoma	HP:0000501
1421	CRYGD	Microphthalmia	HP:0000568
1421	CRYGD	Visual impairment	HP:0000505
1421	CRYGD	Visual loss	HP:0000572
1421	CRYGD	Nystagmus	HP:0000639
8452	CUL3	Pseudohypoaldosteronism	HP:0008242
8452	CUL3	Metabolic acidosis	HP:0001942
8452	CUL3	Hypertension	HP:0000822
8452	CUL3	Autosomal dominant inheritance	HP:0000006
8452	CUL3	Hyperkalemia	HP:0002153
8452	CUL3	Hyperchloremia	HP:0011423
6295	SAG	Abnormal electroretinogram	HP:0000512
6295	SAG	Autosomal dominant inheritance	HP:0000006
6295	SAG	Cataract	HP:0000518
6295	SAG	Autosomal recessive inheritance	HP:0000007
6295	SAG	Undetectable light- and dark-adapted electroretinogram	HP:0007688
6295	SAG	Infantile onset	HP:0003593
6295	SAG	Pendular nystagmus	HP:0012043
6295	SAG	Retinal flecks	HP:0012045
6295	SAG	Peripapillary chorioretinal atrophy	HP:0007950
6295	SAG	Hemeralopia	HP:0012047
6295	SAG	Progressive visual loss	HP:0000529
6295	SAG	Chorioretinal atrophy	HP:0000533
6295	SAG	Abnormality of retinal pigmentation	HP:0007703
6295	SAG	Hypermetropia	HP:0000540
6295	SAG	Retinal detachment	HP:0000541
6295	SAG	Optic disc pallor	HP:0000543
6295	SAG	Hypoplasia of penis	HP:0008736
6295	SAG	Myopia	HP:0000545
6295	SAG	Retinal degeneration	HP:0000546
6295	SAG	Abnormality of the testis	HP:0000035
6295	SAG	Cone/cone-rod dystrophy	HP:0000548
6295	SAG	Undetectable electroretinogram	HP:0000550
6295	SAG	Abnormality of color vision	HP:0000551
6295	SAG	Tritanomaly	HP:0000552
6295	SAG	Retinal pigment epithelial atrophy	HP:0007722
6295	SAG	Retinal dystrophy	HP:0000556
6295	SAG	Reduced amplitude of dark-adapted bright flash electroretinogram b-wave	HP:0007984
6295	SAG	Keratoconus	HP:0000563
6295	SAG	Progressive visual field defects	HP:0007987
6295	SAG	Bone spicule pigmentation of the retina	HP:0007737
6295	SAG	Peripheral visual field loss	HP:0007994
6295	SAG	Visual loss	HP:0000572
6295	SAG	Scotoma	HP:0000575
6295	SAG	Hyperreflexia	HP:0001347
6295	SAG	Pigmentary retinopathy	HP:0000580
6295	SAG	Hyperinsulinemia	HP:0000842
6295	SAG	Fundus atrophy	HP:0001099
6295	SAG	Decreased corneal thickness	HP:0100689
6295	SAG	Retinal atrophy	HP:0001105
6295	SAG	Progressive cone degeneration	HP:0008020
6295	SAG	Ophthalmoparesis	HP:0000597
6295	SAG	Type II diabetes mellitus	HP:0005978
6295	SAG	Central scotoma	HP:0000603
6295	SAG	Posterior polar cataract	HP:0001115
6295	SAG	Cystoid macular degeneration	HP:0008028
6295	SAG	Macular degeneration	HP:0000608
6295	SAG	Visual field defect	HP:0001123
6295	SAG	Photophobia	HP:0000613
6295	SAG	Blindness	HP:0000618
6295	SAG	Posterior subcapsular cataract	HP:0007787
6295	SAG	Retinal arteriolar constriction	HP:0008043
6295	SAG	Constriction of peripheral visual field	HP:0001133
6295	SAG	Abnormality of the retinal vasculature	HP:0008046
6295	SAG	Blurred vision	HP:0000622
6295	SAG	Macular edema	HP:0040049
6295	SAG	Severe visual impairment	HP:0001141
6295	SAG	Pigmentary retinal degeneration	HP:0001146
6295	SAG	Nystagmus	HP:0000639
6295	SAG	Red-green dyschromatopsia	HP:0000642
6295	SAG	Chorioretinal degeneration	HP:0200065
6295	SAG	Abnormal light- and dark-adapted electroretinogram	HP:0008323
6295	SAG	Peripheral retinal atrophy	HP:0200070
6295	SAG	Optic atrophy	HP:0000648
6295	SAG	X-linked inheritance	HP:0001417
6295	SAG	X-linked recessive inheritance	HP:0001419
6295	SAG	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
6295	SAG	Heterogeneous	HP:0001425
6295	SAG	Conductive hearing impairment	HP:0000405
6295	SAG	Nyctalopia	HP:0000662
6295	SAG	Adult-onset night blindness	HP:0007830
6295	SAG	Sensorineural hearing impairment	HP:0000407
6295	SAG	Recurrent respiratory infections	HP:0002205
6295	SAG	Situs inversus totalis	HP:0001696
6295	SAG	Postaxial polydactyly	HP:0100259
6295	SAG	Attenuation of retinal blood vessels	HP:0007843
6295	SAG	Wide nasal bridge	HP:0000431
6295	SAG	Cognitive impairment	HP:0100543
6295	SAG	Dry skin	HP:0000958
6295	SAG	Congenital blindness	HP:0007875
6295	SAG	Eczema	HP:0000964
6295	SAG	Anteverted nares	HP:0000463
6295	SAG	Pallor	HP:0000980
6295	SAG	Hypopigmentation of the fundus	HP:0007894
6295	SAG	Congenital stationary night blindness	HP:0007642
6295	SAG	Atypical scarring of skin	HP:0000987
6295	SAG	Falls	HP:0002527
6295	SAG	Astigmatism	HP:0000483
6295	SAG	Strabismus	HP:0000486
6295	SAG	Immotile cilia	HP:0012263
6295	SAG	Abnormality of skin pigmentation	HP:0001000
6295	SAG	Obesity	HP:0001513
6295	SAG	Macular atrophy	HP:0007401
6295	SAG	Reduced visual acuity	HP:0007663
6295	SAG	Cystoid macular edema	HP:0011505
6295	SAG	Glaucoma	HP:0000501
6295	SAG	Incomplete penetrance	HP:0003829
6295	SAG	Visual impairment	HP:0000505
6295	SAG	Severe Myopia	HP:0011003
6295	SAG	Rod-cone dystrophy	HP:0000510
78987	CRELD1	Atrioventricular canal defect with right ventricle aorta and pulmonary atresia	HP:0005298
78987	CRELD1	Dextrocardia	HP:0001651
78987	CRELD1	Right aortic arch with mirror image branching	HP:0002627
78987	CRELD1	Incomplete penetrance	HP:0003829
78987	CRELD1	Autosomal dominant inheritance	HP:0000006
78987	CRELD1	Pulmonary artery atresia	HP:0004935
79188	TMEM43	Limb-girdle muscular dystrophy	HP:0006785
79188	TMEM43	Autosomal dominant inheritance	HP:0000006
79188	TMEM43	Childhood onset	HP:0011463
79188	TMEM43	X-linked inheritance	HP:0001417
79188	TMEM43	Right ventricular cardiomyopathy	HP:0011663
79188	TMEM43	Peroneal muscle weakness	HP:0011727
79188	TMEM43	Neck muscle weakness	HP:0000467
79188	TMEM43	Ventricular tachycardia	HP:0004756
79188	TMEM43	Prolonged QRS complex	HP:0006677
79188	TMEM43	Proximal amyotrophy	HP:0007126
79188	TMEM43	Decreased cervical spine flexion due to contractures of posterior cervical muscles	HP:0004631
79188	TMEM43	Left ventricular septal hypertrophy	HP:0005144
79188	TMEM43	Peroneal muscle atrophy	HP:0009049
79188	TMEM43	Ventricular extrasystoles	HP:0006682
79188	TMEM43	Arrhythmia	HP:0011675
79188	TMEM43	Slow progression	HP:0003677
79188	TMEM43	Phenotypic variability	HP:0003812
79188	TMEM43	Elevated serum creatine phosphokinase	HP:0003236
79188	TMEM43	Cardiomyopathy	HP:0001638
79188	TMEM43	Muscular dystrophy	HP:0003560
79188	TMEM43	Palpitations	HP:0001962
79188	TMEM43	Spinal rigidity	HP:0003306
79188	TMEM43	Limb muscle weakness	HP:0003690
79188	TMEM43	Scapular winging	HP:0003691
79188	TMEM43	Achilles tendon contracture	HP:0001771
79188	TMEM43	Elbow flexion contracture	HP:0002987
79188	TMEM43	Dilated cardiomyopathy	HP:0001644
79188	TMEM43	Sudden cardiac death	HP:0001645
79188	TMEM43	Respiratory insufficiency	HP:0002093
79188	TMEM43	Restricted neck movement due to contractures	HP:0005997
79188	TMEM43	Distal lower limb amyotrophy	HP:0008944
79188	TMEM43	Mildly elevated creatine phosphokinase	HP:0008180
79188	TMEM43	Variable expressivity	HP:0003828
79188	TMEM43	Proximal muscle weakness	HP:0003701
79188	TMEM43	Atrial fibrillation	HP:0005110
79188	TMEM43	Adult onset	HP:0003581
79188	TMEM43	Limb-girdle muscle weakness	HP:0003325
79188	TMEM43	Bradycardia	HP:0001662
1605	DAG1	Macrocephaly	HP:0000256
1605	DAG1	Areflexia	HP:0001284
1605	DAG1	Cataract	HP:0000518
1605	DAG1	Autosomal recessive inheritance	HP:0000007
1605	DAG1	Infantile onset	HP:0003593
1605	DAG1	Generalized hypotonia	HP:0001290
1605	DAG1	Malar flattening	HP:0000272
1605	DAG1	Chorioretinal abnormality	HP:0000532
1605	DAG1	Corneal opacity	HP:0007957
1605	DAG1	Calf muscle hypertrophy	HP:0008981
1605	DAG1	Pachygyria	HP:0001302
1605	DAG1	Decreased fetal movement	HP:0001558
1605	DAG1	Retrognathia	HP:0000278
1605	DAG1	Hypoplasia of midface	HP:0011800
1605	DAG1	Dandy-Walker malformation	HP:0001305
1605	DAG1	Cryptorchidism	HP:0000028
1605	DAG1	Hypermetropia	HP:0000540
1605	DAG1	Retinal detachment	HP:0000541
1605	DAG1	Decreased testicular size	HP:0008734
1605	DAG1	Hypoplasia of the corpus callosum	HP:0002079
1605	DAG1	Hypoplasia of penis	HP:0008736
1605	DAG1	Persistent hyperplastic primary vitreous	HP:0007968
1605	DAG1	Myopia	HP:0000545
1605	DAG1	Retinal degeneration	HP:0000546
1605	DAG1	Reduced tendon reflexes	HP:0001315
1605	DAG1	Encephalocele	HP:0002084
1605	DAG1	Retinal dysplasia	HP:0007973
1605	DAG1	Occipital encephalocele	HP:0002085
1605	DAG1	Undetectable electroretinogram	HP:0000550
1605	DAG1	Neonatal hypotonia	HP:0001319
1605	DAG1	Cerebellar vermis hypoplasia	HP:0001320
1605	DAG1	Cerebellar hypoplasia	HP:0001321
1605	DAG1	Muscle weakness	HP:0001324
1605	DAG1	Retinal dystrophy	HP:0000556
1605	DAG1	Respiratory insufficiency	HP:0002093
1605	DAG1	Buphthalmos	HP:0000557
1605	DAG1	Cerebellar cyst	HP:0002350
1605	DAG1	EEG abnormality	HP:0002353
1605	DAG1	Hypoplastic male external genitalia	HP:0000050
1605	DAG1	Microphthalmia	HP:0000568
1605	DAG1	Myoclonus	HP:0001336
1605	DAG1	Partial agenesis of the corpus callosum	HP:0001338
1605	DAG1	Uncontrolled eye movements	HP:0007738
1605	DAG1	Hypoplasia of the brainstem	HP:0002365
1605	DAG1	Respiratory failure	HP:0002878
1605	DAG1	Gowers sign	HP:0003391
1605	DAG1	Absent speech	HP:0001344
1605	DAG1	Ankle contracture	HP:0006466
1605	DAG1	Large eyes	HP:0001090
1605	DAG1	Ventriculomegaly	HP:0002119
1605	DAG1	Congenital myopia	HP:0008012
1605	DAG1	Coloboma	HP:0000589
1605	DAG1	Hypoplasia of the pons	HP:0012110
1605	DAG1	Polymicrogyria	HP:0002126
1605	DAG1	Opacification of the corneal stroma	HP:0007759
1605	DAG1	Severe global developmental delay	HP:0011344
1605	DAG1	Holoprosencephaly	HP:0001360
1605	DAG1	Retinal atrophy	HP:0001105
1605	DAG1	Scoliosis	HP:0002650
1605	DAG1	Hypoplasia of the retina	HP:0007770
1605	DAG1	Talipes	HP:0001883
1605	DAG1	Flexion contracture	HP:0001371
1605	DAG1	Micrognathia	HP:0000347
1605	DAG1	Type II lissencephaly	HP:0007260
1605	DAG1	Atria septal defect	HP:0001631
1605	DAG1	Optic nerve hypoplasia	HP:0000609
1605	DAG1	Iris coloboma	HP:0000612
1605	DAG1	Microtia	HP:0008551
1605	DAG1	Blindness	HP:0000618
1605	DAG1	Pulmonic stenosis	HP:0001642
1605	DAG1	Renal cyst	HP:0000107
1605	DAG1	Enlarged flash visual evoked potentials	HP:0008045
1605	DAG1	Renal dysplasia	HP:0000110
1605	DAG1	Low-set, posteriorly rotated ears	HP:0000368
1605	DAG1	Intellectual disability, severe	HP:0010864
1605	DAG1	Low-set ears	HP:0000369
1605	DAG1	Poor head control	HP:0002421
1605	DAG1	Aplasia/Hypoplasia affecting the eye	HP:0008056
1605	DAG1	Abnormality of the pinna	HP:0000377
1605	DAG1	Cerebellar dysplasia	HP:0007033
1605	DAG1	Lumbar hyperlordosis	HP:0002938
1605	DAG1	Short nasal bridge	HP:0003194
1605	DAG1	Posterior fossa cyst	HP:0007291
1605	DAG1	Nystagmus	HP:0000639
1605	DAG1	Skeletal muscle atrophy	HP:0003202
1605	DAG1	Gonadal dysgenesis	HP:0000133
1605	DAG1	Transposition of the great arteries	HP:0001669
1605	DAG1	Optic atrophy	HP:0000648
1605	DAG1	Intellectual disability, profound	HP:0002187
1605	DAG1	Excessive daytime sleepiness	HP:0002189
1605	DAG1	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
1605	DAG1	Heterogeneous	HP:0001425
1605	DAG1	Peters anomaly	HP:0000659
1605	DAG1	Myocardial fibrosis	HP:0001685
1605	DAG1	Sensorineural hearing impairment	HP:0000407
1605	DAG1	Atresia of the external auditory canal	HP:0000413
1605	DAG1	Congenital muscular dystrophy	HP:0003741
1605	DAG1	Adducted thumb	HP:0001181
1605	DAG1	Macroglossia	HP:0000158
1605	DAG1	Poor speech	HP:0002465
1605	DAG1	Elevated serum creatine phosphokinase	HP:0003236
1605	DAG1	Severe muscular hypotonia	HP:0006829
1605	DAG1	Cleft palate	HP:0000175
1605	DAG1	Left ventricular hypertrophy	HP:0001712
1605	DAG1	Hypoplasia of the pyramidal tract	HP:0007348
1605	DAG1	Abnormality of the upper urinary tract	HP:0010935
1605	DAG1	Respiratory insufficiency due to muscle weakness	HP:0002747
1605	DAG1	Persistent pupillary membrane	HP:0009917
1605	DAG1	Cognitive impairment	HP:0100543
1605	DAG1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
1605	DAG1	Feeding difficulties	HP:0011968
1605	DAG1	Abnormality of the cerebral white matter	HP:0002500
1605	DAG1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
1605	DAG1	Cleft upper lip	HP:0000204
1605	DAG1	Pallor	HP:0000980
1605	DAG1	Frontal bossing	HP:0002007
1605	DAG1	Exaggerated startle response	HP:0002267
1605	DAG1	Abnormality of neuronal migration	HP:0002269
1605	DAG1	Intellectual disability	HP:0001249
1605	DAG1	Seizures	HP:0001250
1605	DAG1	Microcornea	HP:0000482
1605	DAG1	Muscular hypotonia	HP:0001252
1605	DAG1	Phenotypic variability	HP:0003812
1605	DAG1	Megalocornea	HP:0000485
1605	DAG1	Strabismus	HP:0000486
1605	DAG1	Abnormality of the vitreous humor	HP:0004327
1605	DAG1	Anal atresia	HP:0002023
1605	DAG1	Muscular dystrophy	HP:0003560
1605	DAG1	Meningoencephalocele	HP:0006888
1605	DAG1	Everted lower lip vermilion	HP:0000232
1605	DAG1	Spasticity	HP:0001257
1605	DAG1	Spinal rigidity	HP:0003306
1605	DAG1	Deeply set eye	HP:0000490
1605	DAG1	Death in childhood	HP:0003819
1605	DAG1	Cortical dysplasia	HP:0002539
1605	DAG1	Thick cerebral cortex	HP:0006891
1605	DAG1	Hydrocephalus	HP:0000238
1605	DAG1	Non-midline cleft lip	HP:0100335
1605	DAG1	Delayed speech and language development	HP:0000750
1605	DAG1	Global developmental delay	HP:0001263
1605	DAG1	Reduced visual acuity	HP:0007663
1605	DAG1	Congenital contracture	HP:0002803
1605	DAG1	Glaucoma	HP:0000501
1605	DAG1	Motor delay	HP:0001270
1605	DAG1	Congenital onset	HP:0003577
1605	DAG1	Visual impairment	HP:0000505
1605	DAG1	Agenesis of corpus callosum	HP:0001274
1605	DAG1	Microcephaly	HP:0000252
1605	DAG1	Generalized muscle weakness	HP:0003324
1605	DAG1	Limb-girdle muscle weakness	HP:0003325
7018	TF	Abnormality of the liver	HP:0001392
7018	TF	Abnormality of immune system physiology	HP:0010978
7018	TF	Congestive heart failure	HP:0001635
7018	TF	Abnormality of the pancreas	HP:0001732
7018	TF	Hypothyroidism	HP:0000821
7018	TF	Autosomal recessive inheritance	HP:0000007
7018	TF	Arthritis	HP:0001369
7018	TF	Hypochromic anemia	HP:0001931
7018	TF	Atransferrinemia	HP:0012239
56922	MCCC1	Skeletal muscle atrophy	HP:0003202
56922	MCCC1	Opisthotonus	HP:0002179
56922	MCCC1	Hyperreflexia	HP:0001347
56922	MCCC1	Hyperammonemia	HP:0001987
56922	MCCC1	Autosomal recessive inheritance	HP:0000007
56922	MCCC1	Organic aciduria	HP:0001992
56922	MCCC1	Ketoacidosis	HP:0001993
56922	MCCC1	Hypoglycemia	HP:0001943
56922	MCCC1	Propionyl-CoA carboxylase deficiency	HP:0003353
56922	MCCC1	Acute hyperammonemia	HP:0008281
56922	MCCC1	Seborrheic dermatitis	HP:0001051
56922	MCCC1	Vomiting	HP:0002013
56922	MCCC1	Intellectual disability	HP:0001249
56922	MCCC1	Seizures	HP:0001250
56922	MCCC1	Hyperglycinuria	HP:0003108
56922	MCCC1	Muscular hypotonia	HP:0001252
56922	MCCC1	Failure to thrive	HP:0001508
56922	MCCC1	Phenotypic variability	HP:0003812
56922	MCCC1	Lethargy	HP:0001254
56922	MCCC1	Ketonuria	HP:0002919
56922	MCCC1	Feeding difficulties in infancy	HP:0008872
56922	MCCC1	Coma	HP:0001259
56922	MCCC1	Acute hepatic steatosis	HP:0006573
56922	MCCC1	Respiratory insufficiency	HP:0002093
56922	MCCC1	Episodic metabolic acidosis	HP:0004911
56922	MCCC1	Global developmental delay	HP:0001263
56922	MCCC1	Abnormality of the cerebral vasculature	HP:0100659
56922	MCCC1	Abnormality of movement	HP:0100022
56922	MCCC1	Alopecia	HP:0001596
56922	MCCC1	Hypertonia	HP:0001276
1181	CLCN2	EEG with generalized polyspikes	HP:0012001
1181	CLCN2	Visual field defect	HP:0001123
1181	CLCN2	Phenotypic variability	HP:0003812
1181	CLCN2	Juvenile onset	HP:0003621
1181	CLCN2	Febrile seizures	HP:0002373
1181	CLCN2	Autosomal dominant inheritance	HP:0000006
1181	CLCN2	Autosomal recessive inheritance	HP:0000007
1181	CLCN2	Absence seizures	HP:0002121
1181	CLCN2	Generalized myoclonic seizures	HP:0002123
1181	CLCN2	Headache	HP:0002315
1181	CLCN2	Leukoencephalopathy	HP:0002352
1181	CLCN2	Heterogeneous	HP:0001425
1181	CLCN2	Optic neuropathy	HP:0001138
1181	CLCN2	Gait ataxia	HP:0002066
1181	CLCN2	Chorioretinal abnormality	HP:0000532
1181	CLCN2	Generalized tonic-clonic seizures	HP:0002069
1181	CLCN2	Status epilepticus	HP:0002133
1181	CLCN2	Limb ataxia	HP:0002070
1181	CLCN2	Morning myoclonic jerks	HP:0007000
1181	CLCN2	EEG with polyspike wave complexes	HP:0002392
1181	CLCN2	Myoclonus	HP:0001336
1181	CLCN2	Generalized tonic-clonic seizures on awakening	HP:0007193
1181	CLCN2	Focal seizures	HP:0007359
152137	CCDC50	Progressive hearing impairment	HP:0001730
152137	CCDC50	Autosomal dominant inheritance	HP:0000006
152137	CCDC50	Young adult onset	HP:0011462
152137	CCDC50	Childhood onset	HP:0011463
152137	CCDC50	Vertigo	HP:0002321
152137	CCDC50	Absence of acoustic reflex	HP:0008529
152137	CCDC50	Postlingual sensorineural hearing impairment	HP:0008596
152137	CCDC50	Conductive hearing impairment	HP:0000405
152137	CCDC50	Sensorineural hearing impairment	HP:0000407
152137	CCDC50	Progressive sensorineural hearing impairment	HP:0000408
152137	CCDC50	Progressive	HP:0003676
152137	CCDC50	Low-frequency hearing loss	HP:0008542
152137	CCDC50	Juvenile onset	HP:0003621
152137	CCDC50	Adult onset sensorineural hearing impairment	HP:0008615
152137	CCDC50	Tinnitus	HP:0000360
152137	CCDC50	Bilateral sensorineural hearing impairment	HP:0008619
152137	CCDC50	Abnormal speech discrimination	HP:0001963
152137	CCDC50	Hearing impairment	HP:0000365
152137	CCDC50	High-frequency hearing impairment	HP:0005101
152137	CCDC50	Cochlear degeneration	HP:0005102
152137	CCDC50	Abnormal auditory evoked potentials	HP:0006958
152137	CCDC50	Old-aged sensorineural hearing impairment	HP:0040113
152137	CCDC50	Preauricular pit	HP:0004467
152137	CCDC50	Abnormality of the vestibulocochlear nerve	HP:0009591
152137	CCDC50	Low-frequency sensorineural hearing impairment	HP:0008573
5130	PCYT1A	Postnatal growth retardation	HP:0008897
5130	PCYT1A	Short metacarpal	HP:0010049
5130	PCYT1A	Abnormality of macular pigmentation	HP:0008002
5130	PCYT1A	Brachydactyly syndrome	HP:0001156
5130	PCYT1A	Autosomal recessive inheritance	HP:0000007
5130	PCYT1A	Metaphyseal widening	HP:0003016
5130	PCYT1A	Rhizomelia	HP:0008905
5130	PCYT1A	Metaphyseal cupping	HP:0003021
5130	PCYT1A	Progressive visual loss	HP:0000529
5130	PCYT1A	Metaphyseal irregularity	HP:0003025
5130	PCYT1A	Recurrent otitis media	HP:0000403
5130	PCYT1A	Severe platyspondyly	HP:0004565
5130	PCYT1A	Abnormality of retinal pigmentation	HP:0007703
5130	PCYT1A	Scoliosis	HP:0002650
5130	PCYT1A	Hypermetropia	HP:0000540
5130	PCYT1A	Limitation of joint mobility	HP:0001376
5130	PCYT1A	Myopia	HP:0000545
5130	PCYT1A	Spondylometaphyseal dysplasia	HP:0002657
5130	PCYT1A	Astigmatism	HP:0000483
5130	PCYT1A	Cone/cone-rod dystrophy	HP:0000548
5130	PCYT1A	Femoral bowing	HP:0002980
5130	PCYT1A	Ovoid vertebral bodies	HP:0003300
5130	PCYT1A	Short finger	HP:0009381
5130	PCYT1A	Photophobia	HP:0000613
5130	PCYT1A	Tibial bowing	HP:0002982
5130	PCYT1A	Abnormality of color vision	HP:0000551
5130	PCYT1A	Joint stiffness	HP:0001387
5130	PCYT1A	Hyperlordosis	HP:0003307
5130	PCYT1A	Narrow greater sacrosciatic notches	HP:0003375
5130	PCYT1A	Dental malocclusion	HP:0000689
5130	PCYT1A	Hypoplastic inferior ilia	HP:0008821
5130	PCYT1A	Cupped ribs	HP:0000887
5130	PCYT1A	Visual impairment	HP:0000505
5130	PCYT1A	Coxa vara	HP:0002812
5130	PCYT1A	Nystagmus	HP:0000639
6443	SGCB	Elevated serum creatine phosphokinase	HP:0003236
6443	SGCB	Juvenile onset	HP:0003621
6443	SGCB	Proximal amyotrophy	HP:0007126
6443	SGCB	Autosomal recessive inheritance	HP:0000007
6443	SGCB	Muscular dystrophy	HP:0003560
6443	SGCB	Scapular winging	HP:0003691
6443	SGCB	Calf muscle pseudohypertrophy	HP:0003707
6443	SGCB	Dilated cardiomyopathy	HP:0001644
6443	SGCB	Pelvic girdle muscle atrophy	HP:0008988
6443	SGCB	Shoulder girdle muscle atrophy	HP:0003724
6443	SGCB	Limb-girdle muscle weakness	HP:0003325
5156	PDGFRA	Hepatomegaly	HP:0002240
5156	PDGFRA	Urticaria	HP:0001025
5156	PDGFRA	Pulmonary infiltrates	HP:0002113
5156	PDGFRA	Abnormality of the nervous system	HP:0000707
5156	PDGFRA	Autosomal dominant inheritance	HP:0000006
5156	PDGFRA	Neoplasm of the rectum	HP:0100743
5156	PDGFRA	Venous thrombosis	HP:0004936
5156	PDGFRA	Esophageal neoplasm	HP:0100751
5156	PDGFRA	Splenomegaly	HP:0001744
5156	PDGFRA	Sarcoma	HP:0100242
5156	PDGFRA	Somatic mutation	HP:0001428
5156	PDGFRA	Large hands	HP:0001176
5156	PDGFRA	Eosinophilia	HP:0001880
5156	PDGFRA	Skin rash	HP:0000988
5156	PDGFRA	Endocardial fibrosis	HP:0006685
5156	PDGFRA	Pruritus	HP:0000989
5156	PDGFRA	Intestinal obstruction	HP:0005214
5156	PDGFRA	Dysphagia	HP:0002015
5156	PDGFRA	Neoplasm of the small intestine	HP:0100833
5156	PDGFRA	Nausea and vomiting	HP:0002017
5156	PDGFRA	Neoplasm of the stomach	HP:0006753
5156	PDGFRA	Sporadic	HP:0003745
5156	PDGFRA	Constipation	HP:0002019
5156	PDGFRA	Irregular hyperpigmentation	HP:0007400
5156	PDGFRA	Feeding difficulties in infancy	HP:0008872
5156	PDGFRA	Neurofibromas	HP:0001067
5156	PDGFRA	Myeloproliferative disorder	HP:0005547
5156	PDGFRA	Anemia	HP:0001903
5156	PDGFRA	Abnormality of the liver	HP:0001392
5156	PDGFRA	Neoplasm of the colon	HP:0100273
5156	PDGFRA	Gastrointestinal stroma tumor	HP:0100723
5156	PDGFRA	Hyperpigmentation of the skin	HP:0000953
5156	PDGFRA	Restrictive cardiomyopathy	HP:0001723
5156	PDGFRA	Myalgia	HP:0003326
5156	PDGFRA	Gastrointestinal hemorrhage	HP:0002239
118429	ANTXR2	Macrocephaly	HP:0000256
118429	ANTXR2	Aplasia/Hypoplasia of the skin	HP:0008065
118429	ANTXR2	Urticaria	HP:0001025
118429	ANTXR2	Skeletal muscle atrophy	HP:0003202
118429	ANTXR2	Abnormality of the adrenal glands	HP:0000834
118429	ANTXR2	Brachydactyly syndrome	HP:0001156
118429	ANTXR2	Recurrent fractures	HP:0002757
118429	ANTXR2	Autosomal recessive inheritance	HP:0000007
118429	ANTXR2	Subcutaneous nodule	HP:0001482
118429	ANTXR2	Camptodactyly of finger	HP:0100490
118429	ANTXR2	Abnormality of the gastrointestinal tract	HP:0011024
118429	ANTXR2	Abnormality of dental morphology	HP:0006482
118429	ANTXR2	Polycystic ovaries	HP:0000147
118429	ANTXR2	Aplasia/Hypoplasia of the thymus	HP:0010515
118429	ANTXR2	Gingival overgrowth	HP:0000212
118429	ANTXR2	Short neck	HP:0000470
118429	ANTXR2	Coarse facial features	HP:0000280
118429	ANTXR2	Flexion contracture	HP:0001371
118429	ANTXR2	Progressive	HP:0003676
118429	ANTXR2	Limitation of joint mobility	HP:0001376
118429	ANTXR2	Abnormality of the skull	HP:0000929
118429	ANTXR2	Abnormality of immune system physiology	HP:0010978
118429	ANTXR2	Short stature	HP:0004322
118429	ANTXR2	Muscular hypotonia	HP:0001252
118429	ANTXR2	Micromelia	HP:0002983
118429	ANTXR2	Telangiectasia of the skin	HP:0100585
118429	ANTXR2	Malabsorption	HP:0002024
118429	ANTXR2	Irregular hyperpigmentation	HP:0007400
118429	ANTXR2	Skin ulcer	HP:0200042
118429	ANTXR2	Gingival fibromatosis	HP:0000169
118429	ANTXR2	Osteopenia	HP:0000938
118429	ANTXR2	Osteoporosis	HP:0000939
118429	ANTXR2	Abnormal diaphysis morphology	HP:0000940
118429	ANTXR2	Lymphedema	HP:0001004
118429	ANTXR2	Osteolysis	HP:0002797
118429	ANTXR2	Thickened skin	HP:0001072
118429	ANTXR2	Progressive flexion contractures	HP:0005876
118429	ANTXR2	Variable expressivity	HP:0003828
118429	ANTXR2	Reduced bone mineral density	HP:0004349
3426	CFI	Recurrent Haemophilus influenzae infections	HP:0005376
3426	CFI	Reticular pigmentary degeneration	HP:0007937
3426	CFI	Increased blood urea nitrogen (BUN)	HP:0003138
3426	CFI	Recurrent meningococcal disease	HP:0005381
3426	CFI	Autosomal dominant inheritance	HP:0000006
3426	CFI	Hemolytic-uremic syndrome	HP:0005575
3426	CFI	Autosomal recessive inheritance	HP:0000007
3426	CFI	Vasculitis	HP:0002633
3426	CFI	Recurrent urinary tract infections	HP:0000010
3426	CFI	Progressive visual loss	HP:0000529
3426	CFI	Thrombocytopenia	HP:0001873
3426	CFI	Microangiopathic hemolytic anemia	HP:0001937
3426	CFI	Abnormality of metabolism/homeostasis	HP:0001939
3426	CFI	Renal insufficiency	HP:0000083
3426	CFI	Recurrent otitis media	HP:0000403
3426	CFI	Hematuria	HP:0000790
3426	CFI	Arthritis	HP:0001369
3426	CFI	Proteinuria	HP:0000093
3426	CFI	Recurrent meningitis	HP:0006946
3426	CFI	Glomerulonephritis	HP:0000099
3426	CFI	Recurrent sinusitis	HP:0011108
3426	CFI	Juvenile onset	HP:0003621
3426	CFI	Anuria	HP:0100519
3426	CFI	Decreased serum complement factor B	HP:0005416
3426	CFI	Pyelonephritis	HP:0012330
3426	CFI	Retinal dystrophy	HP:0000556
3426	CFI	Decreased serum complement factor I	HP:0005356
3426	CFI	Decreased serum complement C3	HP:0005421
3426	CFI	Recurrent skin infections	HP:0001581
3426	CFI	Hypertension	HP:0000822
3426	CFI	Recurrent streptococcus pneumoniae infections	HP:0005366
3426	CFI	Visual impairment	HP:0000505
3426	CFI	Decreased serum complement factor H	HP:0005369
3426	CFI	Elevated serum creatinine	HP:0003259
3426	CFI	Acute kidney injury	HP:0001919
1909	EDNRA	Preauricular skin tag	HP:0000384
1909	EDNRA	Glossoptosis	HP:0000162
1909	EDNRA	Facial asymmetry	HP:0000324
1909	EDNRA	Dental crowding	HP:0000678
1909	EDNRA	Hypoplasia of the maxilla	HP:0000327
1909	EDNRA	Everted lower lip vermilion	HP:0000232
1909	EDNRA	Hydroureter	HP:0000072
1909	EDNRA	Delayed eruption of primary teeth	HP:0000680
1909	EDNRA	Sparse eyelashes	HP:0000653
1909	EDNRA	Bicuspid aortic valve	HP:0001647
1909	EDNRA	Cleft palate	HP:0000175
1909	EDNRA	Wide nasal bridge	HP:0000431
1909	EDNRA	Low-set ears	HP:0000369
1909	EDNRA	Stenosis of the external auditory canal	HP:0000402
1909	EDNRA	Preauricular pit	HP:0004467
1909	EDNRA	Conductive hearing impairment	HP:0000405
1909	EDNRA	Sparse eyebrow	HP:0000535
1909	EDNRA	Cupped ear	HP:0000378
1909	EDNRA	Micrognathia	HP:0000347
1909	EDNRA	Protruding ear	HP:0000411
6531	SLC6A3	Feeding difficulties	HP:0011968
6531	SLC6A3	Constipation	HP:0002019
6531	SLC6A3	Gastroesophageal reflux	HP:0002020
6531	SLC6A3	Autosomal recessive inheritance	HP:0000007
6531	SLC6A3	Muscular hypotonia of the trunk	HP:0008936
6531	SLC6A3	Infantile onset	HP:0003593
6531	SLC6A3	Morphological abnormality of the pyramidal tract	HP:0002062
6531	SLC6A3	Rigidity	HP:0002063
6531	SLC6A3	Global developmental delay	HP:0001263
6531	SLC6A3	Delayed gross motor development	HP:0002194
6531	SLC6A3	Bradykinesia	HP:0002067
6531	SLC6A3	Limb dystonia	HP:0002451
6531	SLC6A3	Parkinsonism	HP:0001300
6531	SLC6A3	Dyskinesia	HP:0100660
6531	SLC6A3	Chorea	HP:0002072
6531	SLC6A3	Abnormal pyramidal signs	HP:0007256
6531	SLC6A3	Tremor	HP:0001337
6531	SLC6A3	Hypertonia	HP:0001276
6531	SLC6A3	Progressive	HP:0003676
54463	FAM134B	Skeletal muscle atrophy	HP:0003202
54463	FAM134B	Osteomyelitis	HP:0002754
54463	FAM134B	Abnormality of the toenails	HP:0008388
54463	FAM134B	Areflexia	HP:0001284
54463	FAM134B	Autosomal recessive inheritance	HP:0000007
54463	FAM134B	Abnormality of the hip bone	HP:0003272
54463	FAM134B	Infantile onset	HP:0003593
54463	FAM134B	Anhidrosis	HP:0000970
54463	FAM134B	Anosmia	HP:0000458
54463	FAM134B	Abnormality of the fingernails	HP:0001231
54463	FAM134B	Hyperhidrosis	HP:0000975
54463	FAM134B	Abnormality of metabolism/homeostasis	HP:0001939
54463	FAM134B	Abnormality of the ankles	HP:0003028
54463	FAM134B	Urinary incontinence	HP:0000020
54463	FAM134B	Wormian bones	HP:0002645
54463	FAM134B	Peripheral axonal neuropathy	HP:0003477
54463	FAM134B	Paronychia	HP:0001818
54463	FAM134B	Progressive	HP:0003676
54463	FAM134B	Slow progression	HP:0003677
54463	FAM134B	Tapered finger	HP:0001182
54463	FAM134B	Abnormality of the eye	HP:0000478
54463	FAM134B	Abnormal cortical bone morphology	HP:0003103
54463	FAM134B	Decreased taste sensation	HP:0000224
54463	FAM134B	Short stature	HP:0004322
54463	FAM134B	Gastroesophageal reflux	HP:0002020
54463	FAM134B	Muscular hypotonia	HP:0001252
54463	FAM134B	Juvenile onset	HP:0003621
54463	FAM134B	Painless fractures due to injury	HP:0002661
54463	FAM134B	Peripheral neuropathy	HP:0009830
54463	FAM134B	Feeding difficulties in infancy	HP:0008872
54463	FAM134B	Spasticity	HP:0001257
54463	FAM134B	Acral ulceration leading to autoamputation of digits	HP:0006121
54463	FAM134B	Abnormality of epiphysis morphology	HP:0005930
54463	FAM134B	Hyperlordosis	HP:0003307
54463	FAM134B	Osteolytic defects of the phalanges of the hand	HP:0009771
54463	FAM134B	Osteolysis	HP:0002797
54463	FAM134B	Episodic hyperhidrosis	HP:0001069
54463	FAM134B	Pain insensitivity	HP:0007021
54463	FAM134B	Global developmental delay	HP:0001263
54463	FAM134B	Hyporeflexia	HP:0001265
54463	FAM134B	Acroosteolysis (feet)	HP:0001842
54463	FAM134B	Decreased number of peripheral myelinated nerve fibers	HP:0003380
54463	FAM134B	Decreased sensory nerve conduction velocity	HP:0003448
54463	FAM134B	Hyposmia	HP:0004409
54463	FAM134B	Decreased nerve conduction velocity	HP:0000762
54463	FAM134B	Reduced bone mineral density	HP:0004349
54463	FAM134B	Abnormality of the knees	HP:0002815
730	C7	Generalized seborrheic dermatitis	HP:0007569
730	C7	C8 deficiency	HP:0004434
730	C7	Recurrent meningitis	HP:0006946
730	C7	Decreased serum complement C9	HP:0012308
730	C7	Recurrent meningococcal disease	HP:0005381
730	C7	Systemic lupus erythematosus	HP:0002725
730	C7	Recurrent Neisserial infections	HP:0005430
730	C7	Autosomal recessive inheritance	HP:0000007
730	C7	Meningitis	HP:0001287
730	C7	Intractable diarrhea	HP:0002041
730	C7	Complement deficiency	HP:0004431
730	C7	Recurrent infections	HP:0002719
9652	TTC37	Hypoalbuminemia	HP:0003073
9652	TTC37	Sparse hair	HP:0008070
9652	TTC37	Autosomal recessive inheritance	HP:0000007
9652	TTC37	Proptosis	HP:0000520
9652	TTC37	Colitis	HP:0002583
9652	TTC37	Abnormality of iron homeostasis	HP:0011031
9652	TTC37	Polyhydramnios	HP:0001561
9652	TTC37	Wide mouth	HP:0000154
9652	TTC37	Abnormality of the immune system	HP:0002715
9652	TTC37	Trichorrhexis nodosa	HP:0009886
9652	TTC37	Narrow mouth	HP:0000160
9652	TTC37	Immunodeficiency	HP:0002721
9652	TTC37	Hypermethioninemia	HP:0003235
9652	TTC37	Underdeveloped supraorbital ridges	HP:0009891
9652	TTC37	Curly hair	HP:0002212
9652	TTC37	Fine hair	HP:0002213
9652	TTC37	Woolly hair	HP:0002224
9652	TTC37	Jaundice	HP:0000952
9652	TTC37	Pili canaliculi	HP:0002235
9652	TTC37	Hypertelorism	HP:0000316
9652	TTC37	Wide nose	HP:0000445
9652	TTC37	Cognitive impairment	HP:0100543
9652	TTC37	Hepatomegaly	HP:0002240
9652	TTC37	Bifid uvula	HP:0000193
9652	TTC37	Abnormality of the pancreas	HP:0001732
9652	TTC37	Depressed nasal ridge	HP:0000457
9652	TTC37	Anteverted nares	HP:0000463
9652	TTC37	Villous atrophy	HP:0011473
9652	TTC37	Hepatitis	HP:0012115
9652	TTC37	Prominent forehead	HP:0011220
9652	TTC37	Frontal bossing	HP:0002007
9652	TTC37	Long philtrum	HP:0000343
9652	TTC37	Ventricular septal defect	HP:0001629
9652	TTC37	Diarrhea	HP:0002014
9652	TTC37	Short stature	HP:0004322
9652	TTC37	Failure to thrive	HP:0001508
9652	TTC37	Tetralogy of Fallot	HP:0001636
9652	TTC37	Increased mean platelet volume	HP:0011877
9652	TTC37	Thrombocytosis	HP:0001894
9652	TTC37	Intrauterine growth retardation	HP:0001511
9652	TTC37	Microtia	HP:0008551
9652	TTC37	Uncombable hair	HP:0030056
9652	TTC37	Pulmonic stenosis	HP:0001642
9652	TTC37	Small for gestational age	HP:0001518
9652	TTC37	Downslanted palpebral fissures	HP:0000494
9652	TTC37	Low-set ears	HP:0000369
9652	TTC37	Cirrhosis	HP:0001394
9652	TTC37	Hepatic fibrosis	HP:0001395
9652	TTC37	Cholestasis	HP:0001396
9652	TTC37	Galactosuria	HP:0012023
9652	TTC37	Hepatic failure	HP:0001399
9652	TTC37	Intractable diarrhea	HP:0002041
9652	TTC37	Brittle hair	HP:0002299
9652	TTC37	Large placenta	HP:0006267
9652	TTC37	Aortic regurgitation	HP:0001659
9652	TTC37	Renal cortical microcysts	HP:0004734
51128	SAR1B	Intellectual disability	HP:0001249
51128	SAR1B	Hypoalbuminemia	HP:0003073
51128	SAR1B	Reduced tendon reflexes	HP:0001315
51128	SAR1B	Failure to thrive	HP:0001508
51128	SAR1B	Growth delay	HP:0001510
51128	SAR1B	Autosomal recessive inheritance	HP:0000007
51128	SAR1B	Infantile onset	HP:0003593
51128	SAR1B	Hypocholesterolemia	HP:0003146
51128	SAR1B	Steatorrhea	HP:0002570
51128	SAR1B	Hypobetalipoproteinemia	HP:0003563
51128	SAR1B	Malnutrition	HP:0004395
51128	SAR1B	Abnormality of blood and blood-forming tissues	HP:0001871
51128	SAR1B	Vomiting	HP:0002013
51128	SAR1B	Diarrhea	HP:0002014
51128	SAR1B	Abnormality of the eye	HP:0000478
51128	SAR1B	Impaired vibratory sensation	HP:0002495
2566	GABRG2	Autosomal dominant inheritance	HP:0000006
2566	GABRG2	Infantile onset	HP:0003593
2566	GABRG2	Cerebral atrophy	HP:0002059
2566	GABRG2	EEG with centrotemporal focal spike waves	HP:0012557
2566	GABRG2	Generalized tonic-clonic seizures	HP:0002069
2566	GABRG2	Cerebral hypomyelination	HP:0006808
2566	GABRG2	Agnosia	HP:0010524
2566	GABRG2	Hemiclonic seizures	HP:0006813
2566	GABRG2	Hypoplasia of the corpus callosum	HP:0002079
2566	GABRG2	Sporadic	HP:0003745
2566	GABRG2	Bilateral convulsive seizures	HP:0007334
2566	GABRG2	Neonatal onset	HP:0003623
2566	GABRG2	Dysphasia	HP:0002357
2566	GABRG2	Tremor	HP:0001337
2566	GABRG2	Focal seizures	HP:0007359
2566	GABRG2	Absent speech	HP:0001344
2566	GABRG2	Infantile encephalopathy	HP:0007105
2566	GABRG2	Generalized tonic seizures	HP:0010818
2566	GABRG2	Atonic seizures	HP:0010819
2566	GABRG2	Febrile seizures	HP:0002373
2566	GABRG2	Epileptic encephalopathy	HP:0200134
2566	GABRG2	Childhood onset	HP:0011463
2566	GABRG2	Developmental regression	HP:0002376
2566	GABRG2	Absence seizures	HP:0002121
2566	GABRG2	Generalized myoclonic seizures	HP:0002123
2566	GABRG2	Aphasia	HP:0002381
2566	GABRG2	Spastic tetraplegia	HP:0002510
2566	GABRG2	Severe global developmental delay	HP:0011344
2566	GABRG2	Focal seizures with impairment of consciousness or awareness	HP:0002384
2566	GABRG2	Status epilepticus	HP:0002133
2566	GABRG2	EEG with polyspike wave complexes	HP:0002392
2566	GABRG2	Hypsarrhythmia	HP:0002521
2566	GABRG2	Epileptic spasms	HP:0011097
2566	GABRG2	Speech apraxia	HP:0011098
2566	GABRG2	EEG with spike-wave complexes (>3.5 Hz)	HP:0010849
2566	GABRG2	Intellectual disability	HP:0001249
2566	GABRG2	Cortical visual impairment	HP:0100704
2566	GABRG2	Seizures	HP:0001250
2566	GABRG2	EEG with burst suppression	HP:0010851
2566	GABRG2	Ataxia	HP:0001251
2566	GABRG2	Muscular hypotonia	HP:0001252
2566	GABRG2	Phenotypic variability	HP:0003812
2566	GABRG2	Spastic paraplegia	HP:0001258
2566	GABRG2	Attention deficit hyperactivity disorder	HP:0007018
2566	GABRG2	Postnatal microcephaly	HP:0005484
2566	GABRG2	Delayed speech and language development	HP:0000750
2566	GABRG2	Global developmental delay	HP:0001263
2566	GABRG2	Intellectual disability, severe	HP:0010864
2566	GABRG2	Variable expressivity	HP:0003828
2566	GABRG2	Mental deterioration	HP:0001268
2566	GABRG2	Incomplete penetrance	HP:0003829
2566	GABRG2	Motor delay	HP:0001270
2566	GABRG2	Impaired horizontal smooth pursuit	HP:0001151
4488	MSX2	Depressed nasal bridge	HP:0005280
4488	MSX2	Myopia	HP:0000545
4488	MSX2	Seizures	HP:0001250
4488	MSX2	Underdeveloped supraorbital ridges	HP:0009891
4488	MSX2	Encephalocele	HP:0002084
4488	MSX2	Autosomal dominant inheritance	HP:0000006
4488	MSX2	Symmetrical, oval parietal bone defects	HP:0002695
4488	MSX2	Parietal foramina	HP:0002697
4488	MSX2	Headache	HP:0002315
4488	MSX2	Wide nasal ridge	HP:0012811
4488	MSX2	Cleft upper lip	HP:0000204
4488	MSX2	Widely patent fontanelles and sutures	HP:0004492
4488	MSX2	Abnormality of the vertebrae	HP:0003468
4488	MSX2	Cleft palate	HP:0000175
4488	MSX2	Triphalangeal thumb	HP:0001199
4488	MSX2	Heterogeneous	HP:0001425
4488	MSX2	Craniosynostosis	HP:0001363
4488	MSX2	Frontal bossing	HP:0002007
4488	MSX2	Aplasia cutis congenita of scalp	HP:0007385
4488	MSX2	Hypertelorism	HP:0000316
4488	MSX2	Short clavicles	HP:0000894
7172	TPMT	Abnormality of metabolism/homeostasis	HP:0001939
7172	TPMT	Autosomal recessive inheritance	HP:0000007
7172	TPMT	Abnormality of blood and blood-forming tissues	HP:0001871
4594	MUT	Hepatomegaly	HP:0002240
4594	MUT	Hyperammonemia	HP:0001987
4594	MUT	Pancreatitis	HP:0001733
4594	MUT	Autosomal recessive inheritance	HP:0000007
4594	MUT	Incoordination	HP:0002311
4594	MUT	Sepsis	HP:0100806
4594	MUT	Optic atrophy	HP:0000648
4594	MUT	Delayed CNS myelination	HP:0002188
4594	MUT	Splenomegaly	HP:0001744
4594	MUT	Thrombocytopenia	HP:0001873
4594	MUT	Abnormality of neutrophils	HP:0001874
4594	MUT	Renal insufficiency	HP:0000083
4594	MUT	Reduced consciousness/confusion	HP:0004372
4594	MUT	Abnormality of the globus pallidus	HP:0002453
4594	MUT	Hemiplegia/hemiparesis	HP:0004374
4594	MUT	Methylmalonic aciduria	HP:0012120
4594	MUT	Dehydration	HP:0001944
4594	MUT	Chorea	HP:0002072
4594	MUT	Leukopenia	HP:0001882
4594	MUT	Abnormality of the renal tubule	HP:0000091
4594	MUT	Metabolic ketoacidosis	HP:0005979
4594	MUT	Vomiting	HP:0002013
4594	MUT	Methylmalonic acidemia	HP:0002912
4594	MUT	Nausea and vomiting	HP:0002017
4594	MUT	Seizures	HP:0001250
4594	MUT	Muscular hypotonia	HP:0001252
4594	MUT	Failure to thrive	HP:0001508
4594	MUT	Cardiomyopathy	HP:0001638
4594	MUT	Lethargy	HP:0001254
4594	MUT	Hypertrophic cardiomyopathy	HP:0001639
4594	MUT	Feeding difficulties in infancy	HP:0008872
4594	MUT	Hyperglycinemia	HP:0002154
4594	MUT	Abdominal pain	HP:0002027
4594	MUT	Coma	HP:0001259
4594	MUT	Respiratory insufficiency	HP:0002093
4594	MUT	Anemia	HP:0001903
4594	MUT	Global developmental delay	HP:0001263
4594	MUT	Cerebellar hemorrhage	HP:0011695
4594	MUT	Tubulointerstitial nephritis	HP:0001970
4594	MUT	Neurological speech impairment	HP:0002167
4594	MUT	Anorexia	HP:0002039
4594	MUT	Intracranial hemorrhage	HP:0002170
4594	MUT	Stage 5 chronic kidney disease	HP:0003774
4594	MUT	Cognitive impairment	HP:0100543
346007	EYS	Abnormal electroretinogram	HP:0000512
346007	EYS	Red-green dyschromatopsia	HP:0000642
346007	EYS	Chorioretinal degeneration	HP:0200065
346007	EYS	Abnormal light- and dark-adapted electroretinogram	HP:0008323
346007	EYS	Peripheral retinal atrophy	HP:0200070
346007	EYS	Autosomal dominant inheritance	HP:0000006
346007	EYS	Cataract	HP:0000518
346007	EYS	Autosomal recessive inheritance	HP:0000007
346007	EYS	Undetectable light- and dark-adapted electroretinogram	HP:0007688
346007	EYS	Optic atrophy	HP:0000648
346007	EYS	X-linked inheritance	HP:0001417
346007	EYS	Infantile onset	HP:0003593
346007	EYS	Pendular nystagmus	HP:0012043
346007	EYS	X-linked recessive inheritance	HP:0001419
346007	EYS	Retinal flecks	HP:0012045
346007	EYS	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
346007	EYS	Peripapillary chorioretinal atrophy	HP:0007950
346007	EYS	Progressive visual loss	HP:0000529
346007	EYS	Chorioretinal atrophy	HP:0000533
346007	EYS	Conductive hearing impairment	HP:0000405
346007	EYS	Nyctalopia	HP:0000662
346007	EYS	Adult-onset night blindness	HP:0007830
346007	EYS	Sensorineural hearing impairment	HP:0000407
346007	EYS	Abnormality of retinal pigmentation	HP:0007703
346007	EYS	Hypermetropia	HP:0000540
346007	EYS	Retinal detachment	HP:0000541
346007	EYS	Recurrent respiratory infections	HP:0002205
346007	EYS	Optic disc pallor	HP:0000543
346007	EYS	Situs inversus totalis	HP:0001696
346007	EYS	Hypoplasia of penis	HP:0008736
346007	EYS	Myopia	HP:0000545
346007	EYS	Postaxial polydactyly	HP:0100259
346007	EYS	Retinal degeneration	HP:0000546
346007	EYS	Attenuation of retinal blood vessels	HP:0007843
346007	EYS	Abnormality of the testis	HP:0000035
346007	EYS	Cone/cone-rod dystrophy	HP:0000548
346007	EYS	Undetectable electroretinogram	HP:0000550
346007	EYS	Abnormality of color vision	HP:0000551
346007	EYS	Tritanomaly	HP:0000552
346007	EYS	Retinal pigment epithelial atrophy	HP:0007722
346007	EYS	Retinal dystrophy	HP:0000556
346007	EYS	Wide nasal bridge	HP:0000431
346007	EYS	Keratoconus	HP:0000563
346007	EYS	Progressive visual field defects	HP:0007987
346007	EYS	Bone spicule pigmentation of the retina	HP:0007737
346007	EYS	Peripheral visual field loss	HP:0007994
346007	EYS	Visual loss	HP:0000572
346007	EYS	Cognitive impairment	HP:0100543
346007	EYS	Scotoma	HP:0000575
346007	EYS	Hyperreflexia	HP:0001347
346007	EYS	Congenital blindness	HP:0007875
346007	EYS	Pigmentary retinopathy	HP:0000580
346007	EYS	Hyperinsulinemia	HP:0000842
346007	EYS	Fundus atrophy	HP:0001099
346007	EYS	Anteverted nares	HP:0000463
346007	EYS	Decreased corneal thickness	HP:0100689
346007	EYS	Retinal atrophy	HP:0001105
346007	EYS	Pallor	HP:0000980
346007	EYS	Progressive cone degeneration	HP:0008020
346007	EYS	Ophthalmoparesis	HP:0000597
346007	EYS	Hypopigmentation of the fundus	HP:0007894
346007	EYS	Type II diabetes mellitus	HP:0005978
346007	EYS	Atypical scarring of skin	HP:0000987
346007	EYS	Central scotoma	HP:0000603
346007	EYS	Posterior polar cataract	HP:0001115
346007	EYS	Cystoid macular degeneration	HP:0008028
346007	EYS	Falls	HP:0002527
346007	EYS	Macular degeneration	HP:0000608
346007	EYS	Astigmatism	HP:0000483
346007	EYS	Visual field defect	HP:0001123
346007	EYS	Photophobia	HP:0000613
346007	EYS	Strabismus	HP:0000486
346007	EYS	Immotile cilia	HP:0012263
346007	EYS	Abnormality of skin pigmentation	HP:0001000
346007	EYS	Obesity	HP:0001513
346007	EYS	Macular atrophy	HP:0007401
346007	EYS	Blindness	HP:0000618
346007	EYS	Posterior subcapsular cataract	HP:0007787
346007	EYS	Retinal arteriolar constriction	HP:0008043
346007	EYS	Constriction of peripheral visual field	HP:0001133
346007	EYS	Abnormality of the retinal vasculature	HP:0008046
346007	EYS	Blurred vision	HP:0000622
346007	EYS	Reduced visual acuity	HP:0007663
346007	EYS	Macular edema	HP:0040049
346007	EYS	Cystoid macular edema	HP:0011505
346007	EYS	Glaucoma	HP:0000501
346007	EYS	Incomplete penetrance	HP:0003829
346007	EYS	Severe visual impairment	HP:0001141
346007	EYS	Visual impairment	HP:0000505
346007	EYS	Pigmentary retinal degeneration	HP:0001146
346007	EYS	Rod-cone dystrophy	HP:0000510
346007	EYS	Nystagmus	HP:0000639
4646	MYO6	Progressive hearing impairment	HP:0001730
4646	MYO6	Autosomal dominant inheritance	HP:0000006
4646	MYO6	Young adult onset	HP:0011462
4646	MYO6	Autosomal recessive inheritance	HP:0000007
4646	MYO6	Childhood onset	HP:0011463
4646	MYO6	Infantile onset	HP:0003593
4646	MYO6	Prelingual sensorineural hearing impairment	HP:0000399
4646	MYO6	Absence of acoustic reflex	HP:0008529
4646	MYO6	Vertigo	HP:0002321
4646	MYO6	Profound sensorineural hearing impairment	HP:0011476
4646	MYO6	Postlingual sensorineural hearing impairment	HP:0008596
4646	MYO6	Conductive hearing impairment	HP:0000405
4646	MYO6	Sensorineural hearing impairment	HP:0000407
4646	MYO6	Vestibular dysfunction	HP:0001751
4646	MYO6	Progressive sensorineural hearing impairment	HP:0000408
4646	MYO6	Congenital stationary night blindness	HP:0007642
4646	MYO6	Vestibular hypofunction	HP:0001756
4646	MYO6	Progressive	HP:0003676
4646	MYO6	Low-frequency hearing loss	HP:0008542
4646	MYO6	Abnormality of the eye	HP:0000478
4646	MYO6	Nonprogressive	HP:0003680
4646	MYO6	Juvenile onset	HP:0003621
4646	MYO6	Adult onset sensorineural hearing impairment	HP:0008615
4646	MYO6	Tinnitus	HP:0000360
4646	MYO6	Digenic inheritance	HP:0010984
4646	MYO6	Profound hearing impairment	HP:0012715
4646	MYO6	Bilateral sensorineural hearing impairment	HP:0008619
4646	MYO6	Abnormal speech discrimination	HP:0001963
4646	MYO6	Hearing impairment	HP:0000365
4646	MYO6	High-frequency hearing impairment	HP:0005101
4646	MYO6	Delayed speech and language development	HP:0000750
4646	MYO6	Cochlear degeneration	HP:0005102
4646	MYO6	Abnormal auditory evoked potentials	HP:0006958
4646	MYO6	Absent brainstem auditory responses	HP:0004463
4646	MYO6	Severe sensorineural hearing impairment	HP:0008625
4646	MYO6	Old-aged sensorineural hearing impairment	HP:0040113
4646	MYO6	Preauricular pit	HP:0004467
4646	MYO6	Motor delay	HP:0001270
4646	MYO6	Abnormality of the vestibulocochlear nerve	HP:0009591
4646	MYO6	Incomplete partition of the cochlea type II	HP:0000376
4646	MYO6	Vestibular areflexia	HP:0008568
4646	MYO6	Congenital onset	HP:0003577
4646	MYO6	Enlarged vestibular aqueduct	HP:0011387
4646	MYO6	Low-frequency sensorineural hearing impairment	HP:0008573
4646	MYO6	Rod-cone dystrophy	HP:0000510
3908	LAMA2	Intellectual disability	HP:0001249
3908	LAMA2	Seizures	HP:0001250
3908	LAMA2	Areflexia	HP:0001284
3908	LAMA2	Elevated serum creatine phosphokinase	HP:0003236
3908	LAMA2	Muscular hypotonia	HP:0001252
3908	LAMA2	Autosomal recessive inheritance	HP:0000007
3908	LAMA2	Abnormal cortical gyration	HP:0002536
3908	LAMA2	Feeding difficulties in infancy	HP:0008872
3908	LAMA2	Muscular dystrophy	HP:0003560
3908	LAMA2	Motor delay	HP:0001270
3908	LAMA2	Congenital onset	HP:0003577
3908	LAMA2	Ophthalmoplegia	HP:0000602
3908	LAMA2	Respiratory insufficiency due to muscle weakness	HP:0002747
3908	LAMA2	Flexion contracture	HP:0001371
3908	LAMA2	Congenital muscular dystrophy	HP:0003741
3908	LAMA2	Kyphoscoliosis	HP:0002751
3908	LAMA2	Hypointensity of cerebral white matter on MRI	HP:0007103
10370	CITED2	Perimembranous ventricular septal defect	HP:0011682
10370	CITED2	Underdeveloped supraorbital ridges	HP:0009891
10370	CITED2	Tetralogy of Fallot	HP:0001636
10370	CITED2	Brachydactyly syndrome	HP:0001156
10370	CITED2	Autosomal dominant inheritance	HP:0000006
10370	CITED2	Intrauterine growth retardation	HP:0001511
10370	CITED2	Proptosis	HP:0000520
10370	CITED2	Thin vermilion border	HP:0000233
10370	CITED2	Dolichocephaly	HP:0000268
10370	CITED2	Abnormal nasal morphology	HP:0005105
10370	CITED2	Clinodactyly of the 5th finger	HP:0004209
10370	CITED2	Broad forehead	HP:0000337
10370	CITED2	Preauricular pit	HP:0004467
10370	CITED2	Cryptorchidism	HP:0000028
10370	CITED2	Atria septal defect	HP:0001631
10370	CITED2	Abnormality of periauricular region	HP:0000383
7957	EPM2A	Cutaneous photosensitivity	HP:0000992
7957	EPM2A	Psychosis	HP:0000709
7957	EPM2A	Bilateral convulsive seizures	HP:0007334
7957	EPM2A	Autosomal recessive inheritance	HP:0000007
7957	EPM2A	Gait disturbance	HP:0001288
7957	EPM2A	Progressive neurologic deterioration	HP:0002344
7957	EPM2A	Absence seizures	HP:0002121
7957	EPM2A	Apraxia	HP:0002186
7957	EPM2A	Generalized myoclonic seizures	HP:0002123
7957	EPM2A	Heterogeneous	HP:0001425
7957	EPM2A	Abnormality of metabolism/homeostasis	HP:0001939
7957	EPM2A	Generalized tonic-clonic seizures	HP:0002069
7957	EPM2A	Dementia	HP:0000726
7957	EPM2A	Hepatic failure	HP:0001399
7957	EPM2A	Myoclonus	HP:0001336
7957	EPM2A	Visual loss	HP:0000572
7957	EPM2A	Visual auras	HP:0011165
7957	EPM2A	Rapidly progressive	HP:0003678
7957	EPM2A	Visual hallucinations	HP:0002367
57492	ARID1B	Umbilical hernia	HP:0001537
57492	ARID1B	Hemangioma	HP:0001028
57492	ARID1B	Autosomal dominant inheritance	HP:0000006
57492	ARID1B	Anonychia	HP:0001798
57492	ARID1B	Cataract	HP:0000518
57492	ARID1B	Intestinal malrotation	HP:0002566
57492	ARID1B	Autosomal recessive inheritance	HP:0000007
57492	ARID1B	Congenital diaphragmatic hernia	HP:0000776
57492	ARID1B	Wide nasal base	HP:0012810
57492	ARID1B	Unilateral narrow palpebral fissure	HP:0007946
57492	ARID1B	Dislocated radial head	HP:0003083
57492	ARID1B	Long eyelashes	HP:0000527
57492	ARID1B	Malar flattening	HP:0000272
57492	ARID1B	Intussusception	HP:0002576
57492	ARID1B	Lumbosacral hirsutism	HP:0009747
57492	ARID1B	Inguinal hernia	HP:0000023
57492	ARID1B	Coarse facial features	HP:0000280
57492	ARID1B	Hypoplasia of midface	HP:0011800
57492	ARID1B	Dandy-Walker malformation	HP:0001305
57492	ARID1B	Cryptorchidism	HP:0000028
57492	ARID1B	Duodenal ulcer	HP:0002588
57492	ARID1B	Epicanthus	HP:0000286
57492	ARID1B	Hypoplasia of the corpus callosum	HP:0002079
57492	ARID1B	Gastric ulcer	HP:0002592
57492	ARID1B	Broad philtrum	HP:0000289
57492	ARID1B	Myopia	HP:0000545
57492	ARID1B	Full cheeks	HP:0000293
57492	ARID1B	Low anterior hairline	HP:0000294
57492	ARID1B	Short distal phalanx of the 5th toe	HP:0100391
57492	ARID1B	Cerebellar hypoplasia	HP:0001321
57492	ARID1B	Abnormality of epiphysis morphology	HP:0005930
57492	ARID1B	Patellar aplasia	HP:0006443
57492	ARID1B	Rocker bottom foot	HP:0001838
57492	ARID1B	Hypospadias	HP:0000047
57492	ARID1B	Abnormality of the nipple	HP:0004404
57492	ARID1B	Partial agenesis of the corpus callosum	HP:0001338
57492	ARID1B	Sandal gap	HP:0001852
57492	ARID1B	Hypertelorism	HP:0000316
57492	ARID1B	Thick eyebrow	HP:0000574
57492	ARID1B	Absent speech	HP:0001344
57492	ARID1B	Short metacarpal	HP:0010049
57492	ARID1B	Short philtrum	HP:0000322
57492	ARID1B	Triangular face	HP:0000325
57492	ARID1B	Blepharophimosis	HP:0000581
57492	ARID1B	Upslanted palpebral fissure	HP:0000582
57492	ARID1B	Ventriculomegaly	HP:0002119
57492	ARID1B	Short phalanx of finger	HP:0009803
57492	ARID1B	Short chin	HP:0000331
57492	ARID1B	Plagiocephaly	HP:0001357
57492	ARID1B	Abnormality of the genital system	HP:0000078
57492	ARID1B	Ectopic kidney	HP:0000086
57492	ARID1B	Abnormal joint morphology	HP:0001367
57492	ARID1B	Long philtrum	HP:0000343
57492	ARID1B	Renal hypoplasia	HP:0000089
57492	ARID1B	Hypotelorism	HP:0000601
57492	ARID1B	Scoliosis	HP:0002650
57492	ARID1B	Micrognathia	HP:0000347
57492	ARID1B	Prominent interphalangeal joints	HP:0006237
57492	ARID1B	Ventricular septal defect	HP:0001629
57492	ARID1B	Atria septal defect	HP:0001631
57492	ARID1B	Abnormal hair quantity	HP:0011362
57492	ARID1B	Aplasia/Hypoplasia of the patella	HP:0006498
57492	ARID1B	Tetralogy of Fallot	HP:0001636
57492	ARID1B	Joint hypermobility	HP:0001382
57492	ARID1B	Posteriorly rotated ears	HP:0000358
57492	ARID1B	Abnormality of the distal phalanx of finger	HP:0009832
57492	ARID1B	Patent ductus arteriosus	HP:0001643
57492	ARID1B	Joint laxity	HP:0001388
57492	ARID1B	Hearing impairment	HP:0000365
57492	ARID1B	Short sternum	HP:0000879
57492	ARID1B	Intellectual disability, severe	HP:0010864
57492	ARID1B	Low-set, posteriorly rotated ears	HP:0000368
57492	ARID1B	Clinodactyly of the 5th finger	HP:0004209
57492	ARID1B	Low-set ears	HP:0000369
57492	ARID1B	Coxa valga	HP:0002673
57492	ARID1B	Long nose	HP:0003189
57492	ARID1B	Neurological speech impairment	HP:0002167
57492	ARID1B	Lacrimation abnormality	HP:0000632
57492	ARID1B	Abnormality of the clavicle	HP:0000889
57492	ARID1B	Short nose	HP:0003196
57492	ARID1B	Hydronephrosis	HP:0000126
57492	ARID1B	Nystagmus	HP:0000639
57492	ARID1B	Aplastic/hypoplastic toenail	HP:0010624
57492	ARID1B	Preauricular skin tag	HP:0000384
57492	ARID1B	Short distal phalanx of the 5th finger	HP:0004227
57492	ARID1B	Brachydactyly syndrome	HP:0001156
57492	ARID1B	Sparse hair	HP:0008070
57492	ARID1B	Abnormality of the metacarpal bones	HP:0001163
57492	ARID1B	Camptodactyly of finger	HP:0100490
57492	ARID1B	Sensorineural hearing impairment	HP:0000407
57492	ARID1B	Aplasia of the uterus	HP:0000151
57492	ARID1B	Clubbing of toes	HP:0100760
57492	ARID1B	Wide mouth	HP:0000154
57492	ARID1B	Short distal phalanx of finger	HP:0009882
57492	ARID1B	Recurrent respiratory infections	HP:0002205
57492	ARID1B	Bulbous nose	HP:0000414
57492	ARID1B	Recurrent infections	HP:0002719
57492	ARID1B	Depressed nasal bridge	HP:0005280
57492	ARID1B	Poor speech	HP:0002465
57492	ARID1B	Sparse scalp hair	HP:0002209
57492	ARID1B	Hypoplastic fifth toenail	HP:0011937
57492	ARID1B	Underdeveloped supraorbital ridges	HP:0009891
57492	ARID1B	Abnormality of the teeth	HP:0000164
57492	ARID1B	Feeding difficulties in infancy	HP:0008872
57492	ARID1B	Abnormality of the nares	HP:0005288
57492	ARID1B	Slow-growing hair	HP:0002217
57492	ARID1B	Absent fifth toenail	HP:0200105
57492	ARID1B	Absent fifth fingernail	HP:0200104
57492	ARID1B	Facial hypertrichosis	HP:0002219
57492	ARID1B	Delayed eruption of teeth	HP:0000684
57492	ARID1B	Abnormality of the palate	HP:0000174
57492	ARID1B	Underdeveloped nasal alae	HP:0000430
57492	ARID1B	Widely spaced teeth	HP:0000687
57492	ARID1B	Cleft palate	HP:0000175
57492	ARID1B	Wide nasal bridge	HP:0000431
57492	ARID1B	Thick lower lip vermilion	HP:0000179
57492	ARID1B	Hernia	HP:0100790
57492	ARID1B	Thick vermilion border	HP:0012471
57492	ARID1B	Delayed eruption of permanent teeth	HP:0000696
57492	ARID1B	Single transverse palmar crease	HP:0000954
57492	ARID1B	Delayed skeletal maturation	HP:0002750
57492	ARID1B	Narrow nasal bridge	HP:0000446
57492	ARID1B	Cognitive impairment	HP:0100543
57492	ARID1B	Abnormal localization of kidney	HP:0100542
57492	ARID1B	Feeding difficulties	HP:0011968
57492	ARID1B	Aplasia/Hypoplasia of the cerebellum	HP:0007360
57492	ARID1B	Sacral dimple	HP:0000960
57492	ARID1B	Postnatal growth retardation	HP:0008897
57492	ARID1B	Open mouth	HP:0000194
57492	ARID1B	Eczema	HP:0000964
57492	ARID1B	Cutis marmorata	HP:0000965
57492	ARID1B	Choanal atresia	HP:0000453
57492	ARID1B	Broad nasal tip	HP:0000455
57492	ARID1B	Abnormality of the hip bone	HP:0003272
57492	ARID1B	Depressed nasal ridge	HP:0000457
57492	ARID1B	Abnormality of the columella	HP:0009929
57492	ARID1B	Short palpebral fissure	HP:0012745
57492	ARID1B	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
57492	ARID1B	Aggressive behavior	HP:0000718
57492	ARID1B	Hypoplastic fifth fingernail	HP:0008398
57492	ARID1B	Anteverted nares	HP:0000463
57492	ARID1B	Abnormal facial shape	HP:0001999
57492	ARID1B	Severe expressive language delay	HP:0006863
57492	ARID1B	Autistic behavior	HP:0000729
57492	ARID1B	High palate	HP:0000218
57492	ARID1B	Thin upper lip vermilion	HP:0000219
57492	ARID1B	Intellectual disability	HP:0001249
57492	ARID1B	Seizures	HP:0001250
57492	ARID1B	Short stature	HP:0004322
57492	ARID1B	Spina bifida occulta	HP:0003298
57492	ARID1B	Elbow dislocation	HP:0003042
57492	ARID1B	Astigmatism	HP:0000483
57492	ARID1B	Failure to thrive	HP:0001508
57492	ARID1B	Muscular hypotonia	HP:0001252
57492	ARID1B	Strabismus	HP:0000486
57492	ARID1B	Renal hypoplasia/aplasia	HP:0008678
57492	ARID1B	Hypertrichosis	HP:0000998
57492	ARID1B	Growth delay	HP:0001510
57492	ARID1B	Intrauterine growth retardation	HP:0001511
57492	ARID1B	Everted lower lip vermilion	HP:0000232
57492	ARID1B	Thin vermilion border	HP:0000233
57492	ARID1B	Downslanted palpebral fissures	HP:0000494
57492	ARID1B	Hirsutism	HP:0001007
57492	ARID1B	Accelerated skeletal maturation	HP:0005616
57492	ARID1B	Abnormality of the eyelashes	HP:0000499
57492	ARID1B	Abnormality of the intervertebral disk	HP:0005108
57492	ARID1B	Short metatarsal	HP:0010743
57492	ARID1B	Kyphosis	HP:0002808
57492	ARID1B	Highly arched eyebrow	HP:0002553
57492	ARID1B	Visual impairment	HP:0000505
57492	ARID1B	Abnormality of the corpus callosum	HP:0001273
57492	ARID1B	Microcephaly	HP:0000252
57492	ARID1B	Ptosis	HP:0000508
57492	ARID1B	Hypertonia	HP:0001276
51660	MPC1	Hepatomegaly	HP:0002240
51660	MPC1	Seizures	HP:0001250
51660	MPC1	Muscular hypotonia	HP:0001252
51660	MPC1	Peripheral neuropathy	HP:0009830
51660	MPC1	Autosomal recessive inheritance	HP:0000007
51660	MPC1	Increased serum lactate	HP:0002151
51660	MPC1	Organic aciduria	HP:0001992
51660	MPC1	Global developmental delay	HP:0001263
51660	MPC1	Rotary nystagmus	HP:0001583
51660	MPC1	Respiratory distress	HP:0002098
51660	MPC1	Encephalopathy	HP:0001298
51660	MPC1	Variable expressivity	HP:0003828
51660	MPC1	Increased serum pyruvate	HP:0003542
51660	MPC1	Hypoglycemia	HP:0001943
51660	MPC1	Long philtrum	HP:0000343
51660	MPC1	Lactic acidosis	HP:0003128
51660	MPC1	Congenital onset	HP:0003577
51660	MPC1	Thin upper lip vermilion	HP:0000219
51660	MPC1	Progressive microcephaly	HP:0000253
51660	MPC1	Epicanthus	HP:0000286
9734	HDAC9	Microcornea	HP:0000482
9734	HDAC9	Strabismus	HP:0000486
9734	HDAC9	Cataract	HP:0000518
9734	HDAC9	Autosomal recessive inheritance	HP:0000007
9734	HDAC9	Corneal dystrophy	HP:0001131
9734	HDAC9	Opacification of the corneal stroma	HP:0007759
9734	HDAC9	Dental malocclusion	HP:0000689
9734	HDAC9	Peters anomaly	HP:0000659
9734	HDAC9	Corneal opacity	HP:0007957
9734	HDAC9	Micrognathia	HP:0000347
9734	HDAC9	Nystagmus	HP:0000639
9734	HDAC9	Congenital glaucoma	HP:0001087
9734	HDAC9	Aplasia/Hypoplasia of the lens	HP:0008063
5723	PSPH	Postnatal growth retardation	HP:0008897
5723	PSPH	Intellectual disability	HP:0001249
5723	PSPH	Seizures	HP:0001250
5723	PSPH	Autosomal recessive inheritance	HP:0000007
5723	PSPH	Intrauterine growth retardation	HP:0001511
5723	PSPH	Cerebral atrophy	HP:0002059
5723	PSPH	Microcephaly	HP:0000252
5723	PSPH	Hypertonia	HP:0001276
5723	PSPH	Global developmental delay	HP:0001263
2006	ELN	Hypercalcemia	HP:0003072
2006	ELN	Umbilical hernia	HP:0001537
2006	ELN	Autosomal dominant inheritance	HP:0000006
2006	ELN	Cataract	HP:0000518
2006	ELN	Congenital cataract	HP:0000519
2006	ELN	Recurrent urinary tract infections	HP:0000010
2006	ELN	Bladder diverticulum	HP:0000015
2006	ELN	Tracheoesophageal fistula	HP:0002575
2006	ELN	Large earlobe	HP:0009748
2006	ELN	Inguinal hernia	HP:0000023
2006	ELN	Abnormality of extrapyramidal motor function	HP:0002071
2006	ELN	Coronary artery stenosis	HP:0005145
2006	ELN	Functional abnormality of male internal genitalia	HP:0000025
2006	ELN	Abnormality of refraction	HP:0000539
2006	ELN	Hyperacusis	HP:0010780
2006	ELN	Hypermetropia	HP:0000540
2006	ELN	Cryptorchidism	HP:0000028
2006	ELN	Hypoplasia of penis	HP:0008736
2006	ELN	Myopia	HP:0000545
2006	ELN	Flat cornea	HP:0007720
2006	ELN	Impaired visuospatial constructive cognition	HP:0010794
2006	ELN	Redundant skin	HP:0001582
2006	ELN	Abnormality of lipid metabolism	HP:0003119
2006	ELN	Celiac disease	HP:0002608
2006	ELN	Emphysema	HP:0002097
2006	ELN	Micropenis	HP:0000054
2006	ELN	Biliary tract abnormality	HP:0001080
2006	ELN	Overriding aorta	HP:0002623
2006	ELN	Obsessive-compulsive trait	HP:0008770
2006	ELN	Blepharophimosis	HP:0000581
2006	ELN	Vocal cord paralysis	HP:0001605
2006	ELN	Cerebral cortical atrophy	HP:0002120
2006	ELN	Abnormality of the voice	HP:0001608
2006	ELN	Hoarse voice	HP:0001609
2006	ELN	Renal duplication	HP:0000075
2006	ELN	Vesicoureteral reflux	HP:0000076
2006	ELN	Reduced number of teeth	HP:0009804
2006	ELN	Cerebral ischemia	HP:0002637
2006	ELN	Opacification of the corneal stroma	HP:0007759
2006	ELN	Renal insufficiency	HP:0000083
2006	ELN	Abnormality of pelvic girdle bone morphology	HP:0002644
2006	ELN	Wormian bones	HP:0002645
2006	ELN	Hypotelorism	HP:0000601
2006	ELN	Renal hypoplasia	HP:0000089
2006	ELN	Scoliosis	HP:0002650
2006	ELN	Gait imbalance	HP:0002141
2006	ELN	Ventricular septal defect	HP:0001629
2006	ELN	Proteinuria	HP:0000093
2006	ELN	Atria septal defect	HP:0001631
2006	ELN	Abnormality of the mitral valve	HP:0001633
2006	ELN	Mitral valve prolapse	HP:0001634
2006	ELN	Congestive heart failure	HP:0001635
2006	ELN	Tetralogy of Fallot	HP:0001636
2006	ELN	Bowel diverticulosis	HP:0005222
2006	ELN	Hypercalciuria	HP:0002150
2006	ELN	Hypertrophic cardiomyopathy	HP:0001639
2006	ELN	Cardiomegaly	HP:0001640
2006	ELN	Abnormality of the pulmonary valve	HP:0001641
2006	ELN	Pulmonic stenosis	HP:0001642
2006	ELN	Patent ductus arteriosus	HP:0001643
2006	ELN	Sudden cardiac death	HP:0001645
2006	ELN	Abnormality of the aortic valve	HP:0001646
2006	ELN	Bicuspid aortic valve	HP:0001647
2006	ELN	Retinal arteriolar tortuosity	HP:0001136
2006	ELN	Clinodactyly of the 5th finger	HP:0004209
2006	ELN	Polycystic kidney dysplasia	HP:0000113
2006	ELN	Posterior embryotoxon	HP:0000627
2006	ELN	Small foramen magnum	HP:0002677
2006	ELN	Mitral regurgitation	HP:0001653
2006	ELN	Periorbital fullness	HP:0000629
2006	ELN	Neurological speech impairment	HP:0002167
2006	ELN	Lacrimation abnormality	HP:0000632
2006	ELN	Nephrocalcinosis	HP:0000121
2006	ELN	Unilateral renal agenesis	HP:0000122
2006	ELN	Aortic regurgitation	HP:0001659
2006	ELN	Blue irides	HP:0000635
2006	ELN	Short nose	HP:0003196
2006	ELN	Pelvic kidney	HP:0000125
2006	ELN	Myopathy	HP:0003198
2006	ELN	Increased nuchal translucency	HP:0010880
2006	ELN	Amblyopia	HP:0000646
2006	ELN	Phonophobia	HP:0002183
2006	ELN	Coronary artery disease	HP:0001677
2006	ELN	Polycystic ovaries	HP:0000147
2006	ELN	Wide mouth	HP:0000154
2006	ELN	Myxomatous mitral valve degeneration	HP:0004764
2006	ELN	Hypodontia	HP:0000668
2006	ELN	Adducted thumb	HP:0001181
2006	ELN	Abnormality of the tongue	HP:0000157
2006	ELN	Recurrent respiratory infections	HP:0002205
2006	ELN	Carious teeth	HP:0000670
2006	ELN	Depressed nasal bridge	HP:0005280
2006	ELN	Early onset of sexual maturation	HP:0100000
2006	ELN	Chronic constipation	HP:0012450
2006	ELN	Sudden death	HP:0001699
2006	ELN	Feeding difficulties in infancy	HP:0008872
2006	ELN	Premature graying of hair	HP:0002216
2006	ELN	Abnormality of dental enamel	HP:0000682
2006	ELN	Dental malocclusion	HP:0000689
2006	ELN	Microdontia	HP:0000691
2006	ELN	Thick lower lip vermilion	HP:0000179
2006	ELN	Periorbital edema	HP:0100539
2006	ELN	Delayed skeletal maturation	HP:0002750
2006	ELN	Cognitive impairment	HP:0100543
2006	ELN	Kyphoscoliosis	HP:0002751
2006	ELN	Abnormal localization of kidney	HP:0100542
2006	ELN	Feeding difficulties	HP:0011968
2006	ELN	Open mouth	HP:0000194
2006	ELN	Abnormality of the gastric mucosa	HP:0004295
2006	ELN	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
2006	ELN	Hernia of the abdominal wall	HP:0004299
2006	ELN	Autism	HP:0000717
2006	ELN	Colonic diverticula	HP:0002253
2006	ELN	Abnormality of the fingernails	HP:0001231
2006	ELN	Involuntary movements	HP:0004305
2006	ELN	Abnormality of the endocardium	HP:0004306
2006	ELN	Obsessive-compulsive behavior	HP:0000722
2006	ELN	Gingival overgrowth	HP:0000212
2006	ELN	Autistic behavior	HP:0000729
2006	ELN	Abnormality of the carotid arteries	HP:0005344
2006	ELN	Intellectual disability	HP:0001249
2006	ELN	Talipes equinovarus	HP:0001762
2006	ELN	Short stature	HP:0004322
2006	ELN	Spina bifida occulta	HP:0003298
2006	ELN	Pes planus	HP:0001763
2006	ELN	Anxiety	HP:0000739
2006	ELN	Muscular hypotonia	HP:0001252
2006	ELN	Everted lower lip vermilion	HP:0000232
2006	ELN	Hyperlordosis	HP:0003307
2006	ELN	Global developmental delay	HP:0001263
2006	ELN	Abnormal form of the vertebral bodies	HP:0003312
2006	ELN	Kyphosis	HP:0002808
2006	ELN	Increased bone mineral density	HP:0011001
2006	ELN	Microcephaly	HP:0000252
2006	ELN	Hypertonia	HP:0001276
2006	ELN	Reduced bone mineral density	HP:0004349
2006	ELN	Pectus excavatum	HP:0000767
2006	ELN	Small nail	HP:0001792
2006	ELN	Arnold-Chiari malformation	HP:0002308
2006	ELN	Incoordination	HP:0002311
2006	ELN	Flat midface	HP:0040199
2006	ELN	Gait disturbance	HP:0001288
2006	ELN	Hypoplastic toenails	HP:0001800
2006	ELN	Hip dislocation	HP:0002827
2006	ELN	Arthralgia	HP:0002829
2006	ELN	Delayed cranial suture closure	HP:0000270
2006	ELN	Abnormality of the face	HP:0000271
2006	ELN	Malar flattening	HP:0000272
2006	ELN	Stroke	HP:0001297
2006	ELN	Nephrolithiasis	HP:0000787
2006	ELN	Narrow face	HP:0000275
2006	ELN	Corneal opacity	HP:0007957
2006	ELN	Coarse facial features	HP:0000280
2006	ELN	Abnormality of the urethra	HP:0000795
2006	ELN	Supravalvular aortic stenosis	HP:0004381
2006	ELN	Epicanthus	HP:0000286
2006	ELN	Hallux valgus	HP:0001822
2006	ELN	Full cheeks	HP:0000293
2006	ELN	Enuresis	HP:0000805
2006	ELN	Cerebellar hypoplasia	HP:0001321
2006	ELN	Genu valgum	HP:0002857
2006	ELN	Pointed chin	HP:0000307
2006	ELN	Diabetes mellitus	HP:0000819
2006	ELN	Hypothyroidism	HP:0000821
2006	ELN	Abnormal dermatoglyphics	HP:0007477
2006	ELN	Sleep disturbance	HP:0002360
2006	ELN	Tremor	HP:0001337
2006	ELN	Precocious puberty	HP:0000826
2006	ELN	Hypertelorism	HP:0000316
2006	ELN	Abnormality of the pulmonary artery	HP:0004414
2006	ELN	Pulmonary artery stenosis	HP:0004415
2006	ELN	Peripheral arterial stenosis	HP:0004928
2006	ELN	Glucose intolerance	HP:0000833
2006	ELN	Poor coordination	HP:0002370
2006	ELN	Hyperreflexia	HP:0001347
2006	ELN	Brisk reflexes	HP:0001348
2006	ELN	Triangular face	HP:0000325
2006	ELN	Premature skin wrinkling	HP:0100678
2006	ELN	Prematurely aged appearance	HP:0007495
2006	ELN	Developmental regression	HP:0002376
2006	ELN	Elfin facies	HP:0004428
2006	ELN	Broad forehead	HP:0000337
2006	ELN	Narrow forehead	HP:0000341
2006	ELN	Down-sloping shoulders	HP:0200021
2006	ELN	Long philtrum	HP:0000343
2006	ELN	Type II diabetes mellitus	HP:0005978
2006	ELN	Flexion contracture	HP:0001371
2006	ELN	Micrognathia	HP:0000347
2006	ELN	High forehead	HP:0000348
2006	ELN	Vertebral segmentation defect	HP:0003422
2006	ELN	Limitation of joint mobility	HP:0001376
2006	ELN	Joint hypermobility	HP:0001382
2006	ELN	Peripheral pulmonary artery stenosis	HP:0004969
2006	ELN	Attention deficit hyperactivity disorder	HP:0007018
2006	ELN	Joint laxity	HP:0001388
2006	ELN	Abnormality of the retinal vasculature	HP:0008046
2006	ELN	Low-set, posteriorly rotated ears	HP:0000368
2006	ELN	Low-set ears	HP:0000369
2006	ELN	Aplasia/Hypoplasia of the iris	HP:0008053
2006	ELN	Renal artery stenosis	HP:0001920
2006	ELN	Portal hypertension	HP:0001409
2006	ELN	Otitis media	HP:0000388
2006	ELN	Macrotia	HP:0000400
2006	ELN	Heterogeneous	HP:0001425
2006	ELN	Recurrent otitis media	HP:0000403
2006	ELN	Sensorineural hearing impairment	HP:0000407
2006	ELN	Protruding ear	HP:0000411
2006	ELN	Arrhythmia	HP:0011675
2006	ELN	Radioulnar synostosis	HP:0002974
2006	ELN	Abnormality of adipose tissue	HP:0009124
2006	ELN	Abnormality of the diencephalon	HP:0010662
2006	ELN	Osteopenia	HP:0000938
2006	ELN	Osteoporosis	HP:0000939
2006	ELN	Hypoplasia of the zygomatic bone	HP:0010669
2006	ELN	Insomnia	HP:0100785
2006	ELN	Hernia	HP:0100790
2006	ELN	Patellar dislocation	HP:0002999
2006	ELN	Arnold-Chiari type I malformation	HP:0007099
2006	ELN	Sacral dimple	HP:0000960
2006	ELN	Broad nasal tip	HP:0000455
2006	ELN	Cutis laxa	HP:0000973
2006	ELN	Renovascular hypertension	HP:0100817
2006	ELN	Abnormality of the neck	HP:0000464
2006	ELN	Soft skin	HP:0000977
2006	ELN	Prominent forehead	HP:0011220
2006	ELN	Abnormality of the ankles	HP:0003028
2006	ELN	Urethral stenosis	HP:0008661
2006	ELN	Nausea and vomiting	HP:0002017
2006	ELN	Constipation	HP:0002019
2006	ELN	Abnormality of the shoulder	HP:0003043
2006	ELN	Gastroesophageal reflux	HP:0002020
2006	ELN	Megalocornea	HP:0000485
2006	ELN	Strabismus	HP:0000486
2006	ELN	Renal hypoplasia/aplasia	HP:0008678
2006	ELN	Intrauterine growth retardation	HP:0001511
2006	ELN	Malabsorption	HP:0002024
2006	ELN	Obesity	HP:0001513
2006	ELN	Abdominal pain	HP:0002027
2006	ELN	Abnormal nasal morphology	HP:0005105
2006	ELN	Rectal prolapse	HP:0002035
2006	ELN	Glaucoma	HP:0000501
2006	ELN	Visual impairment	HP:0000505
2006	ELN	Medial flaring of the eyebrow	HP:0010747
2006	ELN	Failure to thrive in infancy	HP:0001531
781	CACNA2D1	Right bundle branch block	HP:0011712
781	CACNA2D1	Sudden death	HP:0001699
781	CACNA2D1	Autosomal dominant inheritance	HP:0000006
781	CACNA2D1	Shortened QT interval	HP:0012232
781	CACNA2D1	Palpitations	HP:0001962
781	CACNA2D1	Atrial flutter	HP:0004749
781	CACNA2D1	Sudden cardiac death	HP:0001645
781	CACNA2D1	J wave	HP:0012272
781	CACNA2D1	Tachycardia	HP:0001649
781	CACNA2D1	Ventricular tachycardia	HP:0004756
781	CACNA2D1	Ventricular arrhythmia	HP:0004308
781	CACNA2D1	Atrial fibrillation	HP:0005110
781	CACNA2D1	Prolonged PR interval	HP:0012248
781	CACNA2D1	First degree atrioventricular block	HP:0011705
781	CACNA2D1	ST segment elevation	HP:0012251
781	CACNA2D1	Bundle branch block	HP:0011710
781	CACNA2D1	Syncope	HP:0001279
781	CACNA2D1	Ventricular fibrillation	HP:0001663
781	CACNA2D1	Cardiac arrest	HP:0001695
375611	SLC26A5	Progressive hearing impairment	HP:0001730
375611	SLC26A5	Autosomal dominant inheritance	HP:0000006
375611	SLC26A5	Autosomal recessive inheritance	HP:0000007
375611	SLC26A5	Childhood onset	HP:0011463
375611	SLC26A5	Infantile onset	HP:0003593
375611	SLC26A5	Prelingual sensorineural hearing impairment	HP:0000399
375611	SLC26A5	Absence of acoustic reflex	HP:0008529
375611	SLC26A5	Vertigo	HP:0002321
375611	SLC26A5	Profound sensorineural hearing impairment	HP:0011476
375611	SLC26A5	Sensorineural hearing impairment	HP:0000407
375611	SLC26A5	Vestibular dysfunction	HP:0001751
375611	SLC26A5	Progressive sensorineural hearing impairment	HP:0000408
375611	SLC26A5	Congenital stationary night blindness	HP:0007642
375611	SLC26A5	Vestibular hypofunction	HP:0001756
375611	SLC26A5	Abnormality of the eye	HP:0000478
375611	SLC26A5	Nonprogressive	HP:0003680
375611	SLC26A5	Digenic inheritance	HP:0010984
375611	SLC26A5	Profound hearing impairment	HP:0012715
375611	SLC26A5	Bilateral sensorineural hearing impairment	HP:0008619
375611	SLC26A5	Hearing impairment	HP:0000365
375611	SLC26A5	Delayed speech and language development	HP:0000750
375611	SLC26A5	Absent brainstem auditory responses	HP:0004463
375611	SLC26A5	Severe sensorineural hearing impairment	HP:0008625
375611	SLC26A5	Motor delay	HP:0001270
375611	SLC26A5	Incomplete partition of the cochlea type II	HP:0000376
375611	SLC26A5	Vestibular areflexia	HP:0008568
375611	SLC26A5	Congenital onset	HP:0003577
375611	SLC26A5	Enlarged vestibular aqueduct	HP:0011387
375611	SLC26A5	Rod-cone dystrophy	HP:0000510
5506	PPP1R3A	Hyperglycemia	HP:0003074
5506	PPP1R3A	Abnormality of the musculature	HP:0003011
5506	PPP1R3A	Autosomal dominant inheritance	HP:0000006
5506	PPP1R3A	Maternal diabetes	HP:0009800
5506	PPP1R3A	Hyperinsulinemia	HP:0000842
5506	PPP1R3A	Abnormality of the menstrual cycle	HP:0000140
5506	PPP1R3A	Coronary artery disease	HP:0001677
5506	PPP1R3A	Abnormality of the face	HP:0000271
5506	PPP1R3A	Abnormality of the neck	HP:0000464
5506	PPP1R3A	Primary amenorrhea	HP:0000786
5506	PPP1R3A	Polycystic ovaries	HP:0000147
5506	PPP1R3A	Insulin resistance	HP:0000855
5506	PPP1R3A	Hypoalphalipoproteinemia	HP:0003233
5506	PPP1R3A	Hyperuricemia	HP:0002149
5506	PPP1R3A	Lipodystrophy	HP:0009125
5506	PPP1R3A	Hypertrichosis	HP:0000998
5506	PPP1R3A	Decreased subcutaneous fat	HP:0001002
5506	PPP1R3A	Hypertriglyceridemia	HP:0002155
5506	PPP1R3A	Oligomenorrhea	HP:0000876
5506	PPP1R3A	Hirsutism	HP:0001007
5506	PPP1R3A	Abnormality of lipid metabolism	HP:0003119
5506	PPP1R3A	Cirrhosis	HP:0001394
5506	PPP1R3A	Diabetes mellitus	HP:0000819
5506	PPP1R3A	Loss of subcutaneous adipose tissue in limbs	HP:0003635
5506	PPP1R3A	Hepatic steatosis	HP:0001397
5506	PPP1R3A	Hypertension	HP:0000822
5506	PPP1R3A	Prominent superficial veins	HP:0001015
5506	PPP1R3A	Loss of gluteal subcutaneous adipose tissue	HP:0009017
5506	PPP1R3A	Toxemia of pregnancy	HP:0100603
5506	PPP1R3A	Preeclampsia	HP:0100602
5506	PPP1R3A	Acanthosis nigricans	HP:0000956
5506	PPP1R3A	Insulin-resistant diabetes mellitus	HP:0000831
25913	POT1	Neoplasm of the stomach	HP:0006753
25913	POT1	Autosomal dominant somatic cell mutation	HP:0001444
25913	POT1	Intraocular melanoma	HP:0007716
25913	POT1	Atypical nevi (>5mm with irregular edge and pigmentation)	HP:0001062
25913	POT1	Autosomal dominant inheritance	HP:0000006
25913	POT1	Ependymoma	HP:0002888
25913	POT1	Retinopathy	HP:0000488
25913	POT1	Freckling	HP:0001480
25913	POT1	Glioblastoma	HP:0100843
25913	POT1	Neoplasm of the breast	HP:0100013
25913	POT1	Melanoma	HP:0002861
25913	POT1	Chronic lymphatic leukemia	HP:0005550
25913	POT1	Glioblastoma multiforme	HP:0012174
25913	POT1	Neoplasm of the pancreas	HP:0002894
25913	POT1	Atypical nevi in non-sun exposed areas	HP:0001074
25913	POT1	Somatic mutation	HP:0001428
25913	POT1	Abnormality of extrapyramidal motor function	HP:0002071
25913	POT1	Cutaneous melanoma	HP:0012056
25913	POT1	Abnormality of the lymphatic system	HP:0100763
25913	POT1	Numerous nevi	HP:0001054
25913	POT1	Cellular immunodeficiency	HP:0005374
25913	POT1	Abnormality of the eye	HP:0000478
25913	POT1	Dry skin	HP:0000958
23534	TNPO3	Increased connective tissue	HP:0009025
23534	TNPO3	Late-onset distal muscle weakness	HP:0003810
23534	TNPO3	EMG: myopathic abnormalities	HP:0003458
23534	TNPO3	Juvenile onset	HP:0003621
23534	TNPO3	Pelvic girdle muscle weakness	HP:0003749
23534	TNPO3	Autosomal dominant inheritance	HP:0000006
23534	TNPO3	Centrally nucleated skeletal muscle fibers	HP:0003687
23534	TNPO3	Muscular dystrophy	HP:0003560
23534	TNPO3	Spinal rigidity	HP:0003306
23534	TNPO3	Scapular winging	HP:0003691
23534	TNPO3	Abnormality of metabolism/homeostasis	HP:0001939
23534	TNPO3	Biliary cirrhosis	HP:0002613
23534	TNPO3	Autophagic vacuoles	HP:0003736
23534	TNPO3	Flexion contracture	HP:0001371
23534	TNPO3	Shoulder girdle muscle weakness	HP:0003547
23534	TNPO3	Respiratory insufficiency due to muscle weakness	HP:0002747
23534	TNPO3	Adult onset	HP:0003581
23534	TNPO3	Rimmed vacuoles	HP:0003805
4023	LPL	Hypoalphalipoproteinemia	HP:0003233
4023	LPL	Increased circulating very-low-density lipoprotein cholesterol	HP:0003362
4023	LPL	Nausea	HP:0002018
4023	LPL	Combined hyperlipidemia	HP:0008356
4023	LPL	Pancreatitis	HP:0001733
4023	LPL	Hyperlipidemia	HP:0003077
4023	LPL	Autosomal dominant inheritance	HP:0000006
4023	LPL	Autosomal recessive inheritance	HP:0000007
4023	LPL	Hypobetalipoproteinemia	HP:0003563
4023	LPL	Hyperchylomicronemia	HP:0012238
4023	LPL	Episodic abdominal pain	HP:0002574
4023	LPL	Splenomegaly	HP:0001744
4023	LPL	Lipemia retinalis	HP:0000660
4023	LPL	Hypercholesterolemia	HP:0003124
4023	LPL	Eruptive xanthomas	HP:0001013
4023	LPL	Jaundice	HP:0000952
4023	LPL	Hepatosplenomegaly	HP:0001433
4023	LPL	Xanthelasma	HP:0001114
4023	LPL	Myocardial infarction	HP:0001658
4023	LPL	Vomiting	HP:0002013
7486	WRN	Aplasia/Hypoplasia of the skin	HP:0008065
7486	WRN	Skeletal muscle atrophy	HP:0003202
7486	WRN	Neoplasm of the skin	HP:0008069
7486	WRN	Cataract	HP:0000518
7486	WRN	Ovarian neoplasm	HP:0100615
7486	WRN	Autosomal recessive inheritance	HP:0000007
7486	WRN	Hypogonadism	HP:0000135
7486	WRN	Coronary artery disease	HP:0001677
7486	WRN	Decreased fertility	HP:0000144
7486	WRN	Narrow face	HP:0000275
7486	WRN	Abnormality of retinal pigmentation	HP:0007703
7486	WRN	Retinal degeneration	HP:0000546
7486	WRN	Abnormality of the testis	HP:0000035
7486	WRN	White forelock	HP:0002211
7486	WRN	Chondrocalcinosis	HP:0000934
7486	WRN	Neoplasm of the oral cavity	HP:0100649
7486	WRN	Meningioma	HP:0002858
7486	WRN	Osteoporosis	HP:0000939
7486	WRN	Neoplasm of the breast	HP:0100013
7486	WRN	Rocker bottom foot	HP:0001838
7486	WRN	Neoplasm of the lung	HP:0100526
7486	WRN	Abnormality of the cerebral vasculature	HP:0100659
7486	WRN	Diabetes mellitus	HP:0000819
7486	WRN	Hypertension	HP:0000822
7486	WRN	Short palm	HP:0004279
7486	WRN	Premature arteriosclerosis	HP:0005177
7486	WRN	Abnormality of the hair	HP:0001595
7486	WRN	Convex nasal ridge	HP:0000444
7486	WRN	Neoplasm of the thyroid gland	HP:0100031
7486	WRN	Abnormality of the pulmonary artery	HP:0004414
7486	WRN	Laryngomalacia	HP:0001601
7486	WRN	Pili torti	HP:0003777
7486	WRN	Subcutaneous calcification	HP:0007618
7486	WRN	Hyperkeratosis	HP:0000962
7486	WRN	Lack of skin elasticity	HP:0100679
7486	WRN	Prematurely aged appearance	HP:0007495
7486	WRN	Abnormality of the voice	HP:0001608
7486	WRN	Progeroid facial appearance	HP:0005328
7486	WRN	Neoplasm of the small intestine	HP:0100833
7486	WRN	Limitation of joint mobility	HP:0001376
7486	WRN	Abnormal hair whorl	HP:0010721
7486	WRN	Short stature	HP:0004322
7486	WRN	Abnormal hair quantity	HP:0011362
7486	WRN	Lipoatrophy	HP:0100578
7486	WRN	Congestive heart failure	HP:0001635
7486	WRN	Secondary amenorrhea	HP:0000869
7486	WRN	Telangiectasia of the skin	HP:0100585
7486	WRN	Skin ulcer	HP:0200042
7486	WRN	Osteosarcoma	HP:0002669
7486	WRN	Increased bone mineral density	HP:0011001
7486	WRN	Abnormality of the thorax	HP:0000765
7486	WRN	Reduced bone mineral density	HP:0004349
7486	WRN	Renal neoplasm	HP:0009726
6575	SLC20A2	Hepatomegaly	HP:0002240
6575	SLC20A2	Athetosis	HP:0002305
6575	SLC20A2	Motor tics	HP:0100034
6575	SLC20A2	Hyperreflexia	HP:0001347
6575	SLC20A2	Psychosis	HP:0000709
6575	SLC20A2	Autosomal dominant inheritance	HP:0000006
6575	SLC20A2	Ventriculomegaly	HP:0002119
6575	SLC20A2	Gait disturbance	HP:0001288
6575	SLC20A2	Calcification of the small brain vessels	HP:0002504
6575	SLC20A2	Depression	HP:0000716
6575	SLC20A2	Subcutaneous hemorrhage	HP:0001933
6575	SLC20A2	Rigidity	HP:0002063
6575	SLC20A2	Opacification of the corneal stroma	HP:0007759
6575	SLC20A2	Vertigo	HP:0002321
6575	SLC20A2	Thrombocytopenia	HP:0001873
6575	SLC20A2	Cerebral calcification	HP:0002514
6575	SLC20A2	Bradykinesia	HP:0002067
6575	SLC20A2	Parkinsonism	HP:0001300
6575	SLC20A2	Urinary incontinence	HP:0000020
6575	SLC20A2	Dementia	HP:0000726
6575	SLC20A2	Basal ganglia calcification	HP:0002135
6575	SLC20A2	Chorea	HP:0002072
6575	SLC20A2	Abnormal pyramidal signs	HP:0007256
6575	SLC20A2	Dysdiadochokinesis	HP:0002075
6575	SLC20A2	Migraine	HP:0002076
6575	SLC20A2	Progressive	HP:0003676
6575	SLC20A2	Dense calcifications in the cerebellar dentate nucleus	HP:0002461
6575	SLC20A2	Abnormality of neuronal migration	HP:0002269
6575	SLC20A2	Seizures	HP:0001250
6575	SLC20A2	Anxiety	HP:0000739
6575	SLC20A2	Apathy	HP:0000741
6575	SLC20A2	Limb dysmetria	HP:0002406
6575	SLC20A2	Intrauterine growth retardation	HP:0001511
6575	SLC20A2	Mask-like facies	HP:0000298
6575	SLC20A2	Dysarthria	HP:0001260
6575	SLC20A2	Memory impairment	HP:0002354
6575	SLC20A2	Choreoathetosis	HP:0001266
6575	SLC20A2	Mental deterioration	HP:0001268
6575	SLC20A2	Dystonia	HP:0001332
6575	SLC20A2	Dyskinesia	HP:0100660
6575	SLC20A2	Tremor	HP:0001337
6575	SLC20A2	Postural instability	HP:0002172
6575	SLC20A2	Microcephaly	HP:0000252
6575	SLC20A2	Adult onset	HP:0003581
6575	SLC20A2	Nystagmus	HP:0000639
64321	SOX17	Duplicated collecting system	HP:0000081
64321	SOX17	Autosomal dominant inheritance	HP:0000006
64321	SOX17	Joint hypermobility	HP:0001382
64321	SOX17	Hydroureter	HP:0000072
64321	SOX17	Renal hypoplasia	HP:0000089
64321	SOX17	Polyhydramnios	HP:0001561
64321	SOX17	Recurrent urinary tract infections	HP:0000010
64321	SOX17	Vesicoureteral reflux	HP:0000076
64321	SOX17	Abnormality of the skeletal system	HP:0000924
64321	SOX17	Hydronephrosis	HP:0000126
83696	TRAPPC9	Sparse hair	HP:0008070
83696	TRAPPC9	Autosomal recessive inheritance	HP:0000007
83696	TRAPPC9	Infantile onset	HP:0003593
83696	TRAPPC9	Dolichocephaly	HP:0000268
83696	TRAPPC9	Malar flattening	HP:0000272
83696	TRAPPC9	Macrotia	HP:0000400
83696	TRAPPC9	Hyperactive deep tendon reflexes	HP:0006801
83696	TRAPPC9	Narrow face	HP:0000275
83696	TRAPPC9	Long face	HP:0000276
83696	TRAPPC9	Sensorineural hearing impairment	HP:0000407
83696	TRAPPC9	Synophrys	HP:0000664
83696	TRAPPC9	Coarse facial features	HP:0000280
83696	TRAPPC9	Hypoplasia of midface	HP:0011800
83696	TRAPPC9	Downturned corners of mouth	HP:0002714
83696	TRAPPC9	Abnormality of the cerebellar vermis	HP:0002334
83696	TRAPPC9	Babinski sign	HP:0003487
83696	TRAPPC9	Hypoplasia of the corpus callosum	HP:0002079
83696	TRAPPC9	Depressed nasal bridge	HP:0005280
83696	TRAPPC9	Poor speech	HP:0002465
83696	TRAPPC9	Elevated serum creatine phosphokinase	HP:0003236
83696	TRAPPC9	Truncal obesity	HP:0001956
83696	TRAPPC9	Juvenile onset	HP:0003621
83696	TRAPPC9	Intellectual disability, moderate	HP:0002342
83696	TRAPPC9	Prominent nasal bridge	HP:0000426
83696	TRAPPC9	Long eyebrows	HP:0004523
83696	TRAPPC9	Underdeveloped nasal alae	HP:0000430
83696	TRAPPC9	Wide nasal bridge	HP:0000431
83696	TRAPPC9	Mandibular prognathia	HP:0000303
83696	TRAPPC9	Pointed chin	HP:0000307
83696	TRAPPC9	Dystonia	HP:0001332
83696	TRAPPC9	Sleep disturbance	HP:0002360
83696	TRAPPC9	Myoclonus	HP:0001336
83696	TRAPPC9	Tremor	HP:0001337
83696	TRAPPC9	Hypertelorism	HP:0000316
83696	TRAPPC9	Thick eyebrow	HP:0000574
83696	TRAPPC9	Smooth philtrum	HP:0000319
83696	TRAPPC9	Prominent nose	HP:0000448
83696	TRAPPC9	Postnatal growth retardation	HP:0008897
83696	TRAPPC9	Short philtrum	HP:0000322
83696	TRAPPC9	Hyperreflexia	HP:0001347
83696	TRAPPC9	Eczema	HP:0000964
83696	TRAPPC9	Blepharophimosis	HP:0000581
83696	TRAPPC9	Agitation	HP:0000713
83696	TRAPPC9	Short chin	HP:0000331
83696	TRAPPC9	Cleft upper lip	HP:0000204
83696	TRAPPC9	Aggressive behavior	HP:0000718
83696	TRAPPC9	Focal seizures with impairment of consciousness or awareness	HP:0002384
83696	TRAPPC9	Prominent supraorbital ridges	HP:0000336
83696	TRAPPC9	Hypomimic face	HP:0000338
83696	TRAPPC9	Short neck	HP:0000470
83696	TRAPPC9	Long philtrum	HP:0000343
83696	TRAPPC9	Hypotelorism	HP:0000601
83696	TRAPPC9	Thin upper lip vermilion	HP:0000219
83696	TRAPPC9	Flat occiput	HP:0005469
83696	TRAPPC9	Broad eyebrow	HP:0011229
83696	TRAPPC9	Short attention span	HP:0000736
83696	TRAPPC9	Intellectual disability	HP:0001249
83696	TRAPPC9	Pes cavus	HP:0001761
83696	TRAPPC9	Short stature	HP:0004322
83696	TRAPPC9	Seizures	HP:0001250
83696	TRAPPC9	Pes planus	HP:0001763
83696	TRAPPC9	Muscular hypotonia	HP:0001252
83696	TRAPPC9	Growth delay	HP:0001510
83696	TRAPPC9	Strabismus	HP:0000486
83696	TRAPPC9	Self-mutilation	HP:0000742
83696	TRAPPC9	Intellectual disability, progressive	HP:0006887
83696	TRAPPC9	Intellectual disability, mild	HP:0001256
83696	TRAPPC9	Muscular hypotonia of the trunk	HP:0008936
83696	TRAPPC9	Spasticity	HP:0001257
83696	TRAPPC9	Thin vermilion border	HP:0000233
83696	TRAPPC9	Obesity	HP:0001513
83696	TRAPPC9	Deeply set eye	HP:0000490
83696	TRAPPC9	Achilles tendon contracture	HP:0001771
83696	TRAPPC9	Dysarthria	HP:0001260
83696	TRAPPC9	Postnatal microcephaly	HP:0005484
83696	TRAPPC9	Delayed speech and language development	HP:0000750
83696	TRAPPC9	Small for gestational age	HP:0001518
83696	TRAPPC9	Downslanted palpebral fissures	HP:0000494
83696	TRAPPC9	Global developmental delay	HP:0001263
83696	TRAPPC9	Hyperactivity	HP:0000752
83696	TRAPPC9	Intellectual disability, severe	HP:0010864
83696	TRAPPC9	Incomprehensible speech	HP:0002546
83696	TRAPPC9	Telecanthus	HP:0000506
83696	TRAPPC9	Microcephaly	HP:0000252
83696	TRAPPC9	Nystagmus	HP:0000639
26873	OPLAH	Calcium oxalate nephrolithiasis	HP:0008672
26873	OPLAH	Prolinuria	HP:0003137
26873	OPLAH	Enterocolitis	HP:0004387
26873	OPLAH	Autosomal recessive inheritance	HP:0000007
26873	OPLAH	Abdominal pain	HP:0002027
26873	OPLAH	Vomiting	HP:0002013
26873	OPLAH	Diarrhea	HP:0002014
26873	OPLAH	5-oxoprolinase deficiency	HP:0040142
2683	B4GALT1	Macrocephaly	HP:0000256
2683	B4GALT1	Muscular hypotonia	HP:0001252
2683	B4GALT1	Elevated serum creatine phosphokinase	HP:0003236
2683	B4GALT1	Autosomal recessive inheritance	HP:0000007
2683	B4GALT1	Abnormality of coagulation	HP:0001928
2683	B4GALT1	Dandy-Walker malformation	HP:0001305
2683	B4GALT1	Hydrocephalus	HP:0000238
2683	B4GALT1	Myopathy	HP:0003198
2683	B4GALT1	Global developmental delay	HP:0001263
2189	FANCG	Umbilical hernia	HP:0001537
2189	FANCG	Duodenal stenosis	HP:0100867
2189	FANCG	Cataract	HP:0000518
2189	FANCG	Autosomal recessive inheritance	HP:0000007
2189	FANCG	Abnormality of the femur	HP:0002823
2189	FANCG	Proptosis	HP:0000520
2189	FANCG	Abnormality of female internal genitalia	HP:0000008
2189	FANCG	Infantile onset	HP:0003593
2189	FANCG	Recurrent urinary tract infections	HP:0000010
2189	FANCG	Dolichocephaly	HP:0000268
2189	FANCG	Tracheoesophageal fistula	HP:0002575
2189	FANCG	Displacement of the external urethral meatus	HP:0100627
2189	FANCG	Vitiligo	HP:0001045
2189	FANCG	Biliary atresia	HP:0005912
2189	FANCG	Functional abnormality of male internal genitalia	HP:0000025
2189	FANCG	Oligohydramnios	HP:0001562
2189	FANCG	Cryptorchidism	HP:0000028
2189	FANCG	Hypopigmented skin patches	HP:0001053
2189	FANCG	Epicanthus	HP:0000286
2189	FANCG	Weight loss	HP:0001824
2189	FANCG	Squamous cell carcinoma	HP:0002860
2189	FANCG	Hypergonadotropic hypogonadism	HP:0000815
2189	FANCG	Myelodysplasia	HP:0002863
2189	FANCG	Absent thumb	HP:0009777
2189	FANCG	Short thumb	HP:0009778
2189	FANCG	Aplasia/Hypoplasia of the uvula	HP:0010293
2189	FANCG	Micropenis	HP:0000054
2189	FANCG	Microphthalmia	HP:0000568
2189	FANCG	Hypertelorism	HP:0000316
2189	FANCG	Hyperreflexia	HP:0001347
2189	FANCG	Facial asymmetry	HP:0000324
2189	FANCG	Medulloblastoma	HP:0002885
2189	FANCG	Blepharophimosis	HP:0000581
2189	FANCG	Upslanted palpebral fissure	HP:0000582
2189	FANCG	Ventriculomegaly	HP:0002119
2189	FANCG	Thrombocytopenia	HP:0001873
2189	FANCG	Duplicated collecting system	HP:0000081
2189	FANCG	Neutropenia	HP:0001875
2189	FANCG	Renal insufficiency	HP:0000083
2189	FANCG	Pancytopenia	HP:0001876
2189	FANCG	Sloping forehead	HP:0000340
2189	FANCG	Horseshoe kidney	HP:0000085
2189	FANCG	Ectopic kidney	HP:0000086
2189	FANCG	Renal hypoplasia	HP:0000089
2189	FANCG	Scoliosis	HP:0002650
2189	FANCG	Leukopenia	HP:0001882
2189	FANCG	Micrognathia	HP:0000347
2189	FANCG	Ventricular septal defect	HP:0001629
2189	FANCG	Atria septal defect	HP:0001631
2189	FANCG	Abnormality of the hypothalamus-pituitary axis	HP:0000864
2189	FANCG	Tetralogy of Fallot	HP:0001636
2189	FANCG	Aplasia/Hypoplasia of the radius	HP:0006501
2189	FANCG	Microtia	HP:0008551
2189	FANCG	Hypertrophic cardiomyopathy	HP:0001639
2189	FANCG	Reticulocytopenia	HP:0001896
2189	FANCG	Renal agenesis	HP:0000104
2189	FANCG	Nephroblastoma (Wilms tumor)	HP:0002667
2189	FANCG	Patent ductus arteriosus	HP:0001643
2189	FANCG	Renal cyst	HP:0000107
2189	FANCG	Hearing impairment	HP:0000365
2189	FANCG	Abnormality of the aortic valve	HP:0001646
2189	FANCG	Spina bifida	HP:0002414
2189	FANCG	Anemia	HP:0001903
2189	FANCG	Abnormality of the liver	HP:0001392
2189	FANCG	Clinodactyly of the 5th finger	HP:0004209
2189	FANCG	Low-set ears	HP:0000369
2189	FANCG	Leukemia	HP:0001909
2189	FANCG	Aplasia/Hypoplasia of the iris	HP:0008053
2189	FANCG	Aplastic anemia	HP:0001915
2189	FANCG	External ear malformation	HP:0008572
2189	FANCG	Lung segmentation defects	HP:0006525
2189	FANCG	Pelvic kidney	HP:0000125
2189	FANCG	Hydronephrosis	HP:0000126
2189	FANCG	Nystagmus	HP:0000639
2189	FANCG	Absent radius	HP:0003974
2189	FANCG	X-linked recessive inheritance	HP:0001419
2189	FANCG	Abnormality of the vertebrae	HP:0003468
2189	FANCG	Multiple cafe-au-lait spots	HP:0007565
2189	FANCG	Deficient excision of UV-induced pyrimidine dimers in DNA	HP:0003213
2189	FANCG	Prolonged G2 phase of cell cycle	HP:0003214
2189	FANCG	Abnormality of the aorta	HP:0001679
2189	FANCG	Abnormality of chromosome stability	HP:0003220
2189	FANCG	Abnormality of the thumb	HP:0001172
2189	FANCG	Chromosomal breakage induced by crosslinking agents	HP:0003221
2189	FANCG	Bone marrow hypocellularity	HP:0005528
2189	FANCG	Clubbing of toes	HP:0100760
2189	FANCG	Bulbous nose	HP:0000414
2189	FANCG	Depressed nasal bridge	HP:0005280
2189	FANCG	Cranial nerve paralysis	HP:0006824
2189	FANCG	Hypoplasia of the radius	HP:0002984
2189	FANCG	External genital hypoplasia	HP:0003241
2189	FANCG	Cleft palate	HP:0000175
2189	FANCG	Wide nasal bridge	HP:0000431
2189	FANCG	Triphalangeal thumb	HP:0001199
2189	FANCG	Abnormal renal morphology	HP:0012210
2189	FANCG	Abnormality of the ulna	HP:0002997
2189	FANCG	Arteriovenous malformation	HP:0100026
2189	FANCG	Cafe-au-lait spot	HP:0000957
2189	FANCG	Neuroblastoma	HP:0003006
2189	FANCG	Cognitive impairment	HP:0100543
2189	FANCG	Stage 5 chronic kidney disease	HP:0003774
2189	FANCG	Abnormal localization of kidney	HP:0100542
2189	FANCG	Postnatal growth retardation	HP:0008897
2189	FANCG	Choanal atresia	HP:0000453
2189	FANCG	Meckel diverticulum	HP:0002245
2189	FANCG	Abnormality of the hip bone	HP:0003272
2189	FANCG	Short palpebral fissure	HP:0012745
2189	FANCG	Aganglionic megacolon	HP:0002251
2189	FANCG	Abnormal facial shape	HP:0001999
2189	FANCG	Bruising susceptibility	HP:0000978
2189	FANCG	Finger syndactyly	HP:0006101
2189	FANCG	Short neck	HP:0000470
2189	FANCG	Duplication of thumb phalanx	HP:0009942
2189	FANCG	Complete duplication of thumb phalanx	HP:0009943
2189	FANCG	Frontal bossing	HP:0002007
2189	FANCG	Abnormality of cardiovascular system morphology	HP:0030680
2189	FANCG	Abnormality of the carotid arteries	HP:0005344
2189	FANCG	Intellectual disability	HP:0001249
2189	FANCG	Short stature	HP:0004322
2189	FANCG	Pes planus	HP:0001763
2189	FANCG	Astigmatism	HP:0000483
2189	FANCG	Phenotypic variability	HP:0003812
2189	FANCG	Strabismus	HP:0000486
2189	FANCG	Renal hypoplasia/aplasia	HP:0008678
2189	FANCG	Growth delay	HP:0001510
2189	FANCG	Intrauterine growth retardation	HP:0001511
2189	FANCG	Anal atresia	HP:0002023
2189	FANCG	Abnormality of skin pigmentation	HP:0001000
2189	FANCG	Irregular hyperpigmentation	HP:0007400
2189	FANCG	Toe syndactyly	HP:0001770
2189	FANCG	Abnormality of the preputium	HP:0100587
2189	FANCG	Urogenital fistula	HP:0100589
2189	FANCG	Small for gestational age	HP:0001518
2189	FANCG	Hydrocephalus	HP:0000238
2189	FANCG	Global developmental delay	HP:0001263
2189	FANCG	Esophageal atresia	HP:0002032
2189	FANCG	Variable expressivity	HP:0003828
2189	FANCG	Anemic pallor	HP:0001017
2189	FANCG	Visual impairment	HP:0000505
2189	FANCG	Microcephaly	HP:0000252
2189	FANCG	Ptosis	HP:0000508
2189	FANCG	Reduced bone mineral density	HP:0004349
2934	GSN	Generalized amyloid deposition	HP:0003216
2934	GSN	Renal insufficiency	HP:0000083
2934	GSN	Bulbar palsy	HP:0001283
2934	GSN	Nephrotic syndrome	HP:0000100
2934	GSN	Cardiomyopathy	HP:0001638
2934	GSN	Autosomal dominant inheritance	HP:0000006
2934	GSN	Polyneuropathy	HP:0001271
2934	GSN	Lattice corneal dystrophy	HP:0001149
2934	GSN	Adult onset	HP:0003581
2934	GSN	Cutis laxa	HP:0000973
2934	GSN	Abnormality of the abdomen	HP:0001438
56262	LRRC8A	Osteomyelitis	HP:0002754
56262	LRRC8A	Recurrent pneumonia	HP:0006532
56262	LRRC8A	Otitis media	HP:0000388
56262	LRRC8A	Autosomal dominant inheritance	HP:0000006
56262	LRRC8A	Autosomal recessive inheritance	HP:0000007
56262	LRRC8A	Meningitis	HP:0001287
56262	LRRC8A	Sepsis	HP:0100806
56262	LRRC8A	Infantile onset	HP:0003593
56262	LRRC8A	Agammaglobulinemia	HP:0004432
56262	LRRC8A	Abnormality of neutrophils	HP:0001874
56262	LRRC8A	Abnormality of temperature regulation	HP:0004370
56262	LRRC8A	Recurrent otitis media	HP:0000403
56262	LRRC8A	Neutropenia	HP:0001875
56262	LRRC8A	Recurrent bronchitis	HP:0002837
56262	LRRC8A	Dehydration	HP:0001944
56262	LRRC8A	Arthritis	HP:0001369
56262	LRRC8A	Decreased antibody level in blood	HP:0004313
56262	LRRC8A	High palate	HP:0000218
56262	LRRC8A	Skin rash	HP:0000988
56262	LRRC8A	Recurrent respiratory infections	HP:0002205
56262	LRRC8A	Epicanthus	HP:0000286
56262	LRRC8A	Diarrhea	HP:0002014
56262	LRRC8A	Recurrent bacterial infections	HP:0002718
56262	LRRC8A	B lymphocytopenia	HP:0010976
56262	LRRC8A	Failure to thrive	HP:0001508
56262	LRRC8A	Recurrent sinusitis	HP:0011108
56262	LRRC8A	Chronic sinusitis	HP:0011109
56262	LRRC8A	Malabsorption	HP:0002024
56262	LRRC8A	Verrucae	HP:0200043
56262	LRRC8A	Skin ulcer	HP:0200042
56262	LRRC8A	Abnormality of the palate	HP:0000174
56262	LRRC8A	Abnormality of the liver	HP:0001392
56262	LRRC8A	Low-set ears	HP:0000369
56262	LRRC8A	Cellulitis	HP:0100658
56262	LRRC8A	Inflammatory abnormality of the eye	HP:0100533
56262	LRRC8A	Sinusitis	HP:0000246
56262	LRRC8A	Recurrent enteroviral infections	HP:0002743
56262	LRRC8A	Crohn's disease	HP:0100280
56262	LRRC8A	Hypertelorism	HP:0000316
56262	LRRC8A	External ear malformation	HP:0008572
56262	LRRC8A	Conjunctivitis	HP:0000509
56262	LRRC8A	Abnormality of the bronchi	HP:0002109
56262	LRRC8A	Bronchiectasis	HP:0002110
1861	TOR1A	Anxiety	HP:0000739
1861	TOR1A	Blepharospasm	HP:0000643
1861	TOR1A	Muscular hypotonia	HP:0001252
1861	TOR1A	Juvenile onset	HP:0003621
1861	TOR1A	Abnormal posturing	HP:0002533
1861	TOR1A	Autosomal dominant inheritance	HP:0000006
1861	TOR1A	Gait disturbance	HP:0001288
1861	TOR1A	Abnormality of the voice	HP:0001608
1861	TOR1A	Infantile onset	HP:0003593
1861	TOR1A	Hyperlordosis	HP:0003307
1861	TOR1A	Depression	HP:0000716
1861	TOR1A	Dysarthria	HP:0001260
1861	TOR1A	Obsessive-compulsive behavior	HP:0000722
1861	TOR1A	Writer's cramp	HP:0002356
1861	TOR1A	Agoraphobia	HP:0000756
1861	TOR1A	Incomplete penetrance	HP:0003829
1861	TOR1A	Myoclonus	HP:0001336
1861	TOR1A	Kyphosis	HP:0002808
1861	TOR1A	Torsion dystonia	HP:0001304
1861	TOR1A	Tremor	HP:0001337
1861	TOR1A	Torticollis	HP:0000473
1861	TOR1A	Scoliosis	HP:0002650
1861	TOR1A	Hypertonia	HP:0001276
445	ASS1	Hepatomegaly	HP:0002240
445	ASS1	Irritability	HP:0000737
445	ASS1	Intellectual disability	HP:0001249
445	ASS1	Seizures	HP:0001250
445	ASS1	Ataxia	HP:0001251
445	ASS1	Hyperammonemia	HP:0001987
445	ASS1	Phenotypic variability	HP:0003812
445	ASS1	Failure to thrive	HP:0001508
445	ASS1	Cerebral edema	HP:0002181
445	ASS1	Lethargy	HP:0001254
445	ASS1	Neonatal onset	HP:0003623
445	ASS1	Autosomal recessive inheritance	HP:0000007
445	ASS1	Hypoargininemia	HP:0005961
445	ASS1	Coma	HP:0001259
445	ASS1	Global developmental delay	HP:0001263
445	ASS1	Stroke	HP:0001297
445	ASS1	Hyperglutaminemia	HP:0003217
445	ASS1	Oroticaciduria	HP:0003218
445	ASS1	Protein avoidance	HP:0002038
445	ASS1	Vomiting	HP:0002013
445	ASS1	Respiratory alkalosis	HP:0001950
445	ASS1	Episodic ammonia intoxication	HP:0001951
79813	EHMT1	Umbilical hernia	HP:0001537
79813	EHMT1	Brachydactyly syndrome	HP:0001156
79813	EHMT1	Otitis media	HP:0000388
79813	EHMT1	Autosomal dominant inheritance	HP:0000006
79813	EHMT1	Thickened helices	HP:0000391
79813	EHMT1	Abnormality of the cardiac septa	HP:0001671
79813	EHMT1	Abnormality of the aorta	HP:0001679
79813	EHMT1	Malar flattening	HP:0000272
79813	EHMT1	Coarse facial features	HP:0000280
79813	EHMT1	Hypoplasia of midface	HP:0011800
79813	EHMT1	Synophrys	HP:0000664
79813	EHMT1	Downturned corners of mouth	HP:0002714
79813	EHMT1	Arrhythmia	HP:0011675
79813	EHMT1	Cryptorchidism	HP:0000028
79813	EHMT1	Recurrent respiratory infections	HP:0002205
79813	EHMT1	Abnormality of the tongue	HP:0000157
79813	EHMT1	Macroglossia	HP:0000158
79813	EHMT1	Hypoplasia of penis	HP:0008736
79813	EHMT1	Sporadic	HP:0003745
79813	EHMT1	Delayed eruption of teeth	HP:0000684
79813	EHMT1	Respiratory insufficiency	HP:0002093
79813	EHMT1	Bowel incontinence	HP:0002607
79813	EHMT1	Hypospadias	HP:0000047
79813	EHMT1	Mandibular prognathia	HP:0000303
79813	EHMT1	Tented upper lip vermilion	HP:0010804
79813	EHMT1	U-Shaped upper lip vermilion	HP:0010806
79813	EHMT1	Micropenis	HP:0000054
79813	EHMT1	Natal tooth	HP:0000695
79813	EHMT1	Hernia	HP:0100790
79813	EHMT1	Sleep disturbance	HP:0002360
79813	EHMT1	Protruding tongue	HP:0010808
79813	EHMT1	Single transverse palmar crease	HP:0000954
79813	EHMT1	Hypertelorism	HP:0000316
79813	EHMT1	Cognitive impairment	HP:0100543
79813	EHMT1	Abnormality of the pulmonary artery	HP:0004414
79813	EHMT1	Persistence of primary teeth	HP:0006335
79813	EHMT1	Facial asymmetry	HP:0000324
79813	EHMT1	Upslanted palpebral fissure	HP:0000582
79813	EHMT1	Ventriculomegaly	HP:0002119
79813	EHMT1	Cerebral cortical atrophy	HP:0002120
79813	EHMT1	Developmental regression	HP:0002376
79813	EHMT1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
79813	EHMT1	Vesicoureteral reflux	HP:0000076
79813	EHMT1	Autism	HP:0000717
79813	EHMT1	Aggressive behavior	HP:0000718
79813	EHMT1	Anteverted nares	HP:0000463
79813	EHMT1	Flat face	HP:0012368
79813	EHMT1	Broad forehead	HP:0000337
79813	EHMT1	Obsessive-compulsive behavior	HP:0000722
79813	EHMT1	Renal insufficiency	HP:0000083
79813	EHMT1	Abnormality of calvarial morphology	HP:0002648
79813	EHMT1	Scoliosis	HP:0002650
79813	EHMT1	Stereotypic behavior	HP:0000733
79813	EHMT1	Ventricular septal defect	HP:0001629
79813	EHMT1	Limitation of joint mobility	HP:0001376
79813	EHMT1	Intellectual disability	HP:0001249
79813	EHMT1	Short stature	HP:0004322
79813	EHMT1	Tracheobronchomalacia	HP:0002786
79813	EHMT1	Talipes equinovarus	HP:0001762
79813	EHMT1	Seizures	HP:0001250
79813	EHMT1	Constipation	HP:0002019
79813	EHMT1	Gastroesophageal reflux	HP:0002020
79813	EHMT1	Tetralogy of Fallot	HP:0001636
79813	EHMT1	Muscular hypotonia	HP:0001252
79813	EHMT1	Pyloric stenosis	HP:0002021
79813	EHMT1	Apathy	HP:0000741
79813	EHMT1	Everted lower lip vermilion	HP:0000232
79813	EHMT1	Obesity	HP:0001513
79813	EHMT1	Renal cyst	HP:0000107
79813	EHMT1	Hearing impairment	HP:0000365
79813	EHMT1	Self-injurious behavior	HP:0100716
79813	EHMT1	Abnormality of the aortic valve	HP:0001646
79813	EHMT1	Delayed speech and language development	HP:0000750
79813	EHMT1	Intellectual disability, severe	HP:0010864
79813	EHMT1	Neurological speech impairment	HP:0002167
79813	EHMT1	Brachycephaly	HP:0000248
79813	EHMT1	Highly arched eyebrow	HP:0002553
79813	EHMT1	Microcephaly	HP:0000252
79813	EHMT1	Short nose	HP:0003196
79813	EHMT1	Supernumerary nipple	HP:0002558
8516	ITGA8	Sirenomelia	HP:0010497
8516	ITGA8	Abnormality of the intestine	HP:0002242
8516	ITGA8	Autosomal dominant inheritance	HP:0000006
8516	ITGA8	Autosomal recessive inheritance	HP:0000007
8516	ITGA8	Abnormality of female internal genitalia	HP:0000008
8516	ITGA8	Tracheoesophageal fistula	HP:0002575
8516	ITGA8	Primary amenorrhea	HP:0000786
8516	ITGA8	Vaginal atresia	HP:0000148
8516	ITGA8	Retrognathia	HP:0000278
8516	ITGA8	Potter facies	HP:0002009
8516	ITGA8	Oligohydramnios	HP:0001562
8516	ITGA8	Micrognathia	HP:0000347
8516	ITGA8	Proteinuria	HP:0000093
8516	ITGA8	Epicanthus	HP:0000286
8516	ITGA8	Abnormality of the foot	HP:0001760
8516	ITGA8	Talipes equinovarus	HP:0001762
8516	ITGA8	Renal hypoplasia/aplasia	HP:0008678
8516	ITGA8	Renal agenesis	HP:0000104
8516	ITGA8	Pulmonary hypoplasia	HP:0002089
8516	ITGA8	Urogenital fistula	HP:0100589
8516	ITGA8	Bicornuate uterus	HP:0000813
8516	ITGA8	Non-midline cleft lip	HP:0100335
8516	ITGA8	Abnormality of the nose	HP:0000366
8516	ITGA8	Renal dysplasia	HP:0000110
8516	ITGA8	Aplasia/Hypoplasia of the lungs	HP:0006703
8516	ITGA8	Cleft palate	HP:0000175
8516	ITGA8	Low-set, posteriorly rotated ears	HP:0000368
8516	ITGA8	Low-set ears	HP:0000369
8516	ITGA8	Abnormality of the sacrum	HP:0005107
8516	ITGA8	Hypertension	HP:0000822
8516	ITGA8	Congenital onset	HP:0003577
8516	ITGA8	Hypertelorism	HP:0000316
22852	ANKRD26	Thrombocytopenia	HP:0001873
22852	ANKRD26	Bruising susceptibility	HP:0000978
22852	ANKRD26	Abnormal bleeding	HP:0001892
22852	ANKRD26	Autosomal dominant inheritance	HP:0000006
22852	ANKRD26	Autosomal recessive inheritance	HP:0000007
22852	ANKRD26	Abnormality of the skeletal system	HP:0000924
8031	NCOA4	Autosomal dominant inheritance	HP:0000006
8031	NCOA4	Papillary thyroid carcinoma	HP:0002895
288	ANK3	Hyperactivity	HP:0000752
288	ANK3	Intellectual disability	HP:0001249
288	ANK3	Seizures	HP:0001250
288	ANK3	Muscular hypotonia	HP:0001252
288	ANK3	Autosomal recessive inheritance	HP:0000007
288	ANK3	Sleep disturbance	HP:0002360
288	ANK3	Spasticity	HP:0001257
288	ANK3	Aggressive behavior	HP:0000718
23522	KAT6B	Macrocephaly	HP:0000256
23522	KAT6B	Pectus carinatum	HP:0000768
23522	KAT6B	Multicystic kidney dysplasia	HP:0000003
23522	KAT6B	Autosomal dominant inheritance	HP:0000006
23522	KAT6B	Autosomal recessive inheritance	HP:0000007
23522	KAT6B	Proptosis	HP:0000520
23522	KAT6B	Abnormality of the antihelix	HP:0009738
23522	KAT6B	Generalized hypotonia	HP:0001290
23522	KAT6B	Dolichocephaly	HP:0000268
23522	KAT6B	Prominent occiput	HP:0000269
23522	KAT6B	Enlarged thorax	HP:0100625
23522	KAT6B	Malar flattening	HP:0000272
23522	KAT6B	Asymmetry of the thorax	HP:0001555
23522	KAT6B	Sparse eyebrow	HP:0000535
23522	KAT6B	Coarse facial features	HP:0000280
23522	KAT6B	Polyhydramnios	HP:0001561
23522	KAT6B	Cryptorchidism	HP:0000028
23522	KAT6B	Epicanthus	HP:0000286
23522	KAT6B	Abnormality of the helix	HP:0011039
23522	KAT6B	Myopia	HP:0000545
23522	KAT6B	Neoplasm of the oral cavity	HP:0100649
23522	KAT6B	Pulmonary hypoplasia	HP:0002089
23522	KAT6B	Patellar aplasia	HP:0006443
23522	KAT6B	Muscle weakness	HP:0001324
23522	KAT6B	Scrotal hypoplasia	HP:0000046
23522	KAT6B	Aplasia/Hypoplasia of the lungs	HP:0006703
23522	KAT6B	Abnormality of the nipple	HP:0004404
23522	KAT6B	Hypothyroidism	HP:0000821
23522	KAT6B	Abnormal dermatoglyphics	HP:0007477
23522	KAT6B	Micropenis	HP:0000054
23522	KAT6B	Abnormality of female external genitalia	HP:0000055
23522	KAT6B	Apnea	HP:0002104
23522	KAT6B	Hypertelorism	HP:0000316
23522	KAT6B	Abnormality of the pulmonary artery	HP:0004414
23522	KAT6B	Laryngomalacia	HP:0001601
23522	KAT6B	Blepharophimosis	HP:0000581
23522	KAT6B	Triangular face	HP:0000325
23522	KAT6B	Short phalanx of finger	HP:0009803
23522	KAT6B	Aplasia/Hypoplasia of the abdominal wall musculature	HP:0010318
23522	KAT6B	Abnormality of thrombocytes	HP:0001872
23522	KAT6B	Sloping forehead	HP:0000340
23522	KAT6B	Abnormality of pelvic girdle bone morphology	HP:0002644
23522	KAT6B	Long philtrum	HP:0000343
23522	KAT6B	Neurofibrosarcoma	HP:0100697
23522	KAT6B	Scoliosis	HP:0002650
23522	KAT6B	Sagittal craniosynostosis	HP:0004442
23522	KAT6B	Micrognathia	HP:0000347
23522	KAT6B	Talipes	HP:0001883
23522	KAT6B	High forehead	HP:0000348
23522	KAT6B	Ventricular septal defect	HP:0001629
23522	KAT6B	Congenital hip dislocation	HP:0001374
23522	KAT6B	Atria septal defect	HP:0001631
23522	KAT6B	Colpocephaly	HP:0030048
23522	KAT6B	Abnormal hair quantity	HP:0011362
23522	KAT6B	Abnormal bleeding	HP:0001892
23522	KAT6B	Joint hypermobility	HP:0001382
23522	KAT6B	Hypertrophic cardiomyopathy	HP:0001639
23522	KAT6B	Hypoplastic ischia	HP:0003175
23522	KAT6B	Abnormality of the pulmonary valve	HP:0001641
23522	KAT6B	Pulmonic stenosis	HP:0001642
23522	KAT6B	Patent ductus arteriosus	HP:0001643
23522	KAT6B	Hearing impairment	HP:0000365
23522	KAT6B	Low-set, posteriorly rotated ears	HP:0000368
23522	KAT6B	Low-set ears	HP:0000369
23522	KAT6B	Clinodactyly of the 5th finger	HP:0004209
23522	KAT6B	Polycystic kidney dysplasia	HP:0000113
23522	KAT6B	Low posterior hairline	HP:0002162
23522	KAT6B	Neurological speech impairment	HP:0002167
23522	KAT6B	Hypoplastic inferior pubic rami	HP:0008823
23522	KAT6B	Lacrimation abnormality	HP:0000632
23522	KAT6B	Blue irides	HP:0000635
23522	KAT6B	Short nose	HP:0003196
23522	KAT6B	Hydronephrosis	HP:0000126
23522	KAT6B	Abnormality of periauricular region	HP:0000383
23522	KAT6B	Nystagmus	HP:0000639
23522	KAT6B	Relative macrocephaly	HP:0004482
23522	KAT6B	Brachydactyly syndrome	HP:0001156
23522	KAT6B	Clinodactyly	HP:0030084
23522	KAT6B	Thickened helices	HP:0000391
23522	KAT6B	Abnormality of the cardiac septa	HP:0001671
23522	KAT6B	Hypogonadism	HP:0000135
23522	KAT6B	Abnormality of coagulation	HP:0001928
23522	KAT6B	Complete atrioventricular canal defect	HP:0001674
23522	KAT6B	Camptodactyly of finger	HP:0100490
23522	KAT6B	Coarctation of aorta	HP:0001680
23522	KAT6B	Heterogeneous	HP:0001425
23522	KAT6B	Shield chest	HP:0000914
23522	KAT6B	Pectus excavatum of inferior sternum	HP:0000915
23522	KAT6B	Superior pectus carinatum	HP:0000917
23522	KAT6B	Cubitus valgus	HP:0002967
23522	KAT6B	Sensorineural hearing impairment	HP:0000407
23522	KAT6B	Arrhythmia	HP:0011675
23522	KAT6B	Recurrent respiratory infections	HP:0002205
23522	KAT6B	Radioulnar synostosis	HP:0002974
23522	KAT6B	Depressed nasal bridge	HP:0005280
23522	KAT6B	Coarse hair	HP:0002208
23522	KAT6B	Synovitis	HP:0100769
23522	KAT6B	Sparse scalp hair	HP:0002209
23522	KAT6B	High anterior hairline	HP:0009890
23522	KAT6B	Curly hair	HP:0002212
23522	KAT6B	Reduced factor XIII activity	HP:0008357
23522	KAT6B	Fine hair	HP:0002213
23522	KAT6B	Feeding difficulties in infancy	HP:0008872
23522	KAT6B	Prominent nasal bridge	HP:0000426
23522	KAT6B	Delayed eruption of teeth	HP:0000684
23522	KAT6B	Abnormality of the palate	HP:0000174
23522	KAT6B	Cleft palate	HP:0000175
23522	KAT6B	Dental malocclusion	HP:0000689
23522	KAT6B	Juvenile myelomonocytic leukemia	HP:0012209
23522	KAT6B	Thick lower lip vermilion	HP:0000179
23522	KAT6B	Male infertility	HP:0003251
23522	KAT6B	Mitral stenosis	HP:0001718
23522	KAT6B	Patellar dislocation	HP:0002999
23522	KAT6B	Hyperpigmentation of the skin	HP:0000953
23522	KAT6B	Single transverse palmar crease	HP:0000954
23522	KAT6B	Wide nose	HP:0000445
23522	KAT6B	Cognitive impairment	HP:0100543
23522	KAT6B	Delayed skeletal maturation	HP:0002750
23522	KAT6B	Kyphoscoliosis	HP:0002751
23522	KAT6B	Hepatomegaly	HP:0002240
23522	KAT6B	Prominent nose	HP:0000448
23522	KAT6B	Postnatal growth retardation	HP:0008897
23522	KAT6B	Hyperkeratosis	HP:0000962
23522	KAT6B	Prolonged bleeding time	HP:0003010
23522	KAT6B	Hip contracture	HP:0003273
23522	KAT6B	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
23522	KAT6B	Hyperextensible skin	HP:0000974
23522	KAT6B	Abnormality of the spleen	HP:0001743
23522	KAT6B	Abnormal facial shape	HP:0001999
23522	KAT6B	Anteverted nares	HP:0000463
23522	KAT6B	Webbed neck	HP:0000465
23522	KAT6B	Wide intermamillary distance	HP:0006610
23522	KAT6B	Prominent forehead	HP:0011220
23522	KAT6B	Short neck	HP:0000470
23522	KAT6B	Frontal bossing	HP:0002007
23522	KAT6B	Clitoral hypertrophy	HP:0008665
23522	KAT6B	Thickened nuchal skin fold	HP:0000474
23522	KAT6B	High palate	HP:0000218
23522	KAT6B	Atrial septal aneurysm	HP:0011995
23522	KAT6B	Cystic hygroma	HP:0000476
23522	KAT6B	Dysphagia	HP:0002015
23522	KAT6B	Intellectual disability	HP:0001249
23522	KAT6B	Short stature	HP:0004322
23522	KAT6B	Seizures	HP:0001250
23522	KAT6B	Talipes equinovarus	HP:0001762
23522	KAT6B	Melanocytic nevus	HP:0000995
23522	KAT6B	Muscular hypotonia	HP:0001252
23522	KAT6B	Failure to thrive	HP:0001508
23522	KAT6B	Strabismus	HP:0000486
23522	KAT6B	Intellectual disability, progressive	HP:0006887
23522	KAT6B	Intellectual disability, mild	HP:0001256
23522	KAT6B	Reduced factor XII activity	HP:0004841
23522	KAT6B	Lymphedema	HP:0001004
23522	KAT6B	Knee flexion contracture	HP:0006380
23522	KAT6B	Downslanted palpebral fissures	HP:0000494
23522	KAT6B	Delayed speech and language development	HP:0000750
23522	KAT6B	Global developmental delay	HP:0001263
23522	KAT6B	Abnormal nasal morphology	HP:0005105
23522	KAT6B	Arthrogryposis multiplex congenita	HP:0002804
23522	KAT6B	Hyperkeratosis pilaris	HP:0040180
23522	KAT6B	Hypertrophic labia minora	HP:0008694
23522	KAT6B	Radial deviation of finger	HP:0009466
23522	KAT6B	Agenesis of corpus callosum	HP:0001274
23522	KAT6B	Amegakaryocytic thrombocytopenia	HP:0004859
23522	KAT6B	Failure to thrive in infancy	HP:0001531
23522	KAT6B	Microcephaly	HP:0000252
23522	KAT6B	Ptosis	HP:0000508
23522	KAT6B	Periventricular gray matter heterotopia	HP:0007165
23522	KAT6B	Abnormality of the sternum	HP:0000766
23522	KAT6B	Pectus excavatum	HP:0000767
3257	HPS1	Gingival bleeding	HP:0000225
3257	HPS1	Prolonged bleeding time	HP:0003010
3257	HPS1	Melanocytic nevus	HP:0000995
3257	HPS1	Epistaxis	HP:0000421
3257	HPS1	Cardiomyopathy	HP:0001638
3257	HPS1	Autosomal recessive inheritance	HP:0000007
3257	HPS1	Freckling	HP:0001480
3257	HPS1	Restrictive lung disease	HP:0002091
3257	HPS1	Abdominal pain	HP:0002027
3257	HPS1	Abnormal platelet granules	HP:0011883
3257	HPS1	Hematochezia	HP:0002573
3257	HPS1	Heterogeneous	HP:0001425
3257	HPS1	Bruising susceptibility	HP:0000978
3257	HPS1	Freckles in sun-exposed areas	HP:0007603
3257	HPS1	Renal insufficiency	HP:0000083
3257	HPS1	Ocular albinism	HP:0001107
3257	HPS1	Inflammation of the large intestine	HP:0002037
3257	HPS1	Severe visual impairment	HP:0001141
3257	HPS1	Abnormality of the hair	HP:0001595
3257	HPS1	Pulmonary fibrosis	HP:0002206
3257	HPS1	Albinism	HP:0001022
3257	HPS1	Nystagmus	HP:0000639
9184	BUB3	Duodenal stenosis	HP:0100867
9184	BUB3	Multicystic kidney dysplasia	HP:0000003
9184	BUB3	Ascites	HP:0001541
9184	BUB3	Cataract	HP:0000518
9184	BUB3	Ovarian neoplasm	HP:0100615
9184	BUB3	Autosomal recessive inheritance	HP:0000007
9184	BUB3	Generalized hypotonia	HP:0001290
9184	BUB3	Combined immunodeficiency	HP:0005387
9184	BUB3	Dolichocephaly	HP:0000268
9184	BUB3	Malar flattening	HP:0000272
9184	BUB3	Long face	HP:0000276
9184	BUB3	Generalized tonic-clonic seizures	HP:0002069
9184	BUB3	Hypoplasia of midface	HP:0011800
9184	BUB3	Dandy-Walker malformation	HP:0001305
9184	BUB3	Polyhydramnios	HP:0001561
9184	BUB3	Oligohydramnios	HP:0001562
9184	BUB3	Cryptorchidism	HP:0000028
9184	BUB3	Epicanthus	HP:0000286
9184	BUB3	Sleep apnea	HP:0010535
9184	BUB3	Cerebellar hypoplasia	HP:0001321
9184	BUB3	Rhabdomyosarcoma	HP:0002859
9184	BUB3	Vaginal neoplasm	HP:0100650
9184	BUB3	Hypospadias	HP:0000047
9184	BUB3	Myelodysplasia	HP:0002863
9184	BUB3	Bifid scrotum	HP:0000048
9184	BUB3	Hypothyroidism	HP:0000821
9184	BUB3	Abnormal lung lobation	HP:0002101
9184	BUB3	Micropenis	HP:0000054
9184	BUB3	Growth hormone deficiency	HP:0000824
9184	BUB3	Apnea	HP:0002104
9184	BUB3	Hypertelorism	HP:0000316
9184	BUB3	Ambiguous genitalia	HP:0000062
9184	BUB3	Triangular face	HP:0000325
9184	BUB3	Blepharophimosis	HP:0000581
9184	BUB3	Upslanted palpebral fissure	HP:0000582
9184	BUB3	Ventriculomegaly	HP:0002119
9184	BUB3	Generalized myoclonic seizures	HP:0002123
9184	BUB3	Intestinal polyposis	HP:0200008
9184	BUB3	Opacification of the corneal stroma	HP:0007759
9184	BUB3	Severe global developmental delay	HP:0011344
9184	BUB3	Holoprosencephaly	HP:0001360
9184	BUB3	Sloping forehead	HP:0000340
9184	BUB3	Long philtrum	HP:0000343
9184	BUB3	Premature chromatid separation	HP:0200024
9184	BUB3	Micrognathia	HP:0000347
9184	BUB3	High forehead	HP:0000348
9184	BUB3	Ventricular septal defect	HP:0001629
9184	BUB3	Atria septal defect	HP:0001631
9184	BUB3	Neoplasm of the stomach	HP:0006753
9184	BUB3	Posteriorly rotated ears	HP:0000358
9184	BUB3	Renal cyst	HP:0000107
9184	BUB3	Nephroblastoma (Wilms tumor)	HP:0002667
9184	BUB3	Epidermoid cyst	HP:0200040
9184	BUB3	Hearing abnormality	HP:0000364
9184	BUB3	Hearing impairment	HP:0000365
9184	BUB3	Short sternum	HP:0000879
9184	BUB3	Low-set, posteriorly rotated ears	HP:0000368
9184	BUB3	Low-set ears	HP:0000369
9184	BUB3	Clinodactyly of the 5th finger	HP:0004209
9184	BUB3	Leukemia	HP:0001909
9184	BUB3	Aplasia/Hypoplasia affecting the eye	HP:0008056
9184	BUB3	Aortic regurgitation	HP:0001659
9184	BUB3	Short nose	HP:0003196
9184	BUB3	Nystagmus	HP:0000639
9184	BUB3	Increased nuchal translucency	HP:0010880
9184	BUB3	Skeletal muscle atrophy	HP:0003202
9184	BUB3	Intellectual disability, profound	HP:0002187
9184	BUB3	Abnormality of the aorta	HP:0001679
9184	BUB3	Coarctation of aorta	HP:0001680
9184	BUB3	Subaortic stenosis	HP:0001682
9184	BUB3	Sarcoma	HP:0100242
9184	BUB3	Depressed nasal bridge	HP:0005280
9184	BUB3	Feeding difficulties in infancy	HP:0008872
9184	BUB3	Cleft palate	HP:0000175
9184	BUB3	Neoplasm of the colon	HP:0100273
9184	BUB3	Acute leukemia	HP:0002488
9184	BUB3	Wide nose	HP:0000445
9184	BUB3	Cafe-au-lait spot	HP:0000957
9184	BUB3	Delayed skeletal maturation	HP:0002750
9184	BUB3	Cognitive impairment	HP:0100543
9184	BUB3	Aplasia/Hypoplasia of the cerebellum	HP:0007360
9184	BUB3	Hypodysplasia of the corpus callosum	HP:0006849
9184	BUB3	Postnatal growth retardation	HP:0008897
9184	BUB3	Duodenal atresia	HP:0002247
9184	BUB3	Short palpebral fissure	HP:0012745
9184	BUB3	Depressed nasal ridge	HP:0000457
9184	BUB3	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
9184	BUB3	Triangular mouth	HP:0000207
9184	BUB3	Anteverted nares	HP:0000463
9184	BUB3	Short neck	HP:0000470
9184	BUB3	Frontal bossing	HP:0002007
9184	BUB3	Cerebral hypoplasia	HP:0006872
9184	BUB3	Short stature	HP:0004322
9184	BUB3	Seizures	HP:0001250
9184	BUB3	Abnormality of immune system physiology	HP:0010978
9184	BUB3	Phenotypic variability	HP:0003812
9184	BUB3	Muscular hypotonia	HP:0001252
9184	BUB3	Intrauterine growth retardation	HP:0001511
9184	BUB3	Intellectual disability, mild	HP:0001256
9184	BUB3	Abnormality of skin pigmentation	HP:0001000
9184	BUB3	Deeply set eye	HP:0000490
9184	BUB3	Osteolysis	HP:0002797
9184	BUB3	Small for gestational age	HP:0001518
9184	BUB3	Hydrocephalus	HP:0000238
9184	BUB3	Downslanted palpebral fissures	HP:0000494
9184	BUB3	Abnormal nasal morphology	HP:0005105
9184	BUB3	Glaucoma	HP:0000501
9184	BUB3	Brachycephaly	HP:0000248
9184	BUB3	Agenesis of corpus callosum	HP:0001274
9184	BUB3	Microcephaly	HP:0000252
81846	SBF2	Pes cavus	HP:0001761
81846	SBF2	Talipes equinovarus	HP:0001762
81846	SBF2	Foot dorsiflexor weakness	HP:0009027
81846	SBF2	Areflexia	HP:0001284
81846	SBF2	Juvenile onset	HP:0003621
81846	SBF2	Hammertoe	HP:0001765
81846	SBF2	Autosomal recessive inheritance	HP:0000007
81846	SBF2	Decreased motor nerve conduction velocity	HP:0003431
81846	SBF2	Distal amyotrophy	HP:0003693
81846	SBF2	Steppage gait	HP:0003376
81846	SBF2	Hyporeflexia	HP:0001265
81846	SBF2	Difficulty walking	HP:0002355
81846	SBF2	Decreased number of peripheral myelinated nerve fibers	HP:0003380
81846	SBF2	Glaucoma	HP:0000501
81846	SBF2	Onion bulb formation	HP:0003383
81846	SBF2	Sensorineural hearing impairment	HP:0000407
81846	SBF2	Distal sensory impairment	HP:0002936
81846	SBF2	Segmental peripheral demyelination/remyelination	HP:0003481
81846	SBF2	Ulnar claw	HP:0001178
81846	SBF2	Distal muscle weakness	HP:0002460
81846	SBF2	Kyphoscoliosis	HP:0002751
7251	TSG101	Heterogeneous	HP:0001425
7251	TSG101	Autosomal dominant inheritance	HP:0000006
7251	TSG101	Breast carcinoma	HP:0003002
4607	MYBPC3	Right bundle branch block	HP:0011712
4607	MYBPC3	EMG abnormality	HP:0003457
4607	MYBPC3	Left bundle branch block	HP:0011713
4607	MYBPC3	Autosomal dominant inheritance	HP:0000006
4607	MYBPC3	Young adult onset	HP:0011462
4607	MYBPC3	Autosomal recessive inheritance	HP:0000007
4607	MYBPC3	X-linked inheritance	HP:0001417
4607	MYBPC3	Atrial flutter	HP:0004749
4607	MYBPC3	Impaired myocardial contractility	HP:0006670
4607	MYBPC3	Atrioventricular block	HP:0001678
4607	MYBPC3	Left ventricular noncompaction cardiomyopathy	HP:0011664
4607	MYBPC3	Coarctation of aorta	HP:0001680
4607	MYBPC3	Reduced systolic function	HP:0006673
4607	MYBPC3	Stroke	HP:0001297
4607	MYBPC3	Abnormality of neutrophils	HP:0001874
4607	MYBPC3	Ventricular tachycardia	HP:0004756
4607	MYBPC3	Ventricular arrhythmia	HP:0004308
4607	MYBPC3	Palmoplantar keratoderma	HP:0000982
4607	MYBPC3	Sensorineural hearing impairment	HP:0000407
4607	MYBPC3	Arrhythmia	HP:0011675
4607	MYBPC3	Ventricular septal defect	HP:0001629
4607	MYBPC3	Endocardial fibrosis	HP:0006685
4607	MYBPC3	Hypoplastic left heart	HP:0004383
4607	MYBPC3	Cardiac arrest	HP:0001695
4607	MYBPC3	Congestive heart failure	HP:0001635
4607	MYBPC3	Lipoatrophy	HP:0100578
4607	MYBPC3	Sudden death	HP:0001699
4607	MYBPC3	Juvenile onset	HP:0003621
4607	MYBPC3	Hypertrophic cardiomyopathy	HP:0001639
4607	MYBPC3	Endocardial fibroelastosis	HP:0001706
4607	MYBPC3	Palpitations	HP:0001962
4607	MYBPC3	Patent ductus arteriosus	HP:0001643
4607	MYBPC3	Pulmonary artery hypoplasia	HP:0004971
4607	MYBPC3	Dilated cardiomyopathy	HP:0001644
4607	MYBPC3	Sudden cardiac death	HP:0001645
4607	MYBPC3	Abnormality of the left ventricle	HP:0001711
4607	MYBPC3	Bicuspid aortic valve	HP:0001647
4607	MYBPC3	Left ventricular hypertrophy	HP:0001712
4607	MYBPC3	Mitral regurgitation	HP:0001653
4607	MYBPC3	Proximal muscle weakness	HP:0003701
4607	MYBPC3	Atrial fibrillation	HP:0005110
4607	MYBPC3	Restrictive cardiomyopathy	HP:0001723
4607	MYBPC3	Tricuspid regurgitation	HP:0005180
4607	MYBPC3	Myopathy	HP:0003198
4607	MYBPC3	Syncope	HP:0001279
81622	UNC93B1	Autosomal dominant inheritance	HP:0000006
81622	UNC93B1	Autosomal recessive inheritance	HP:0000007
81622	UNC93B1	Susceptibility to herpesvirus	HP:0005353
81622	UNC93B1	Herpes simplex encephalitis	HP:0012302
4361	MRE11A	Gaze-evoked nystagmus	HP:0000640
4361	MRE11A	Autosomal dominant inheritance	HP:0000006
4361	MRE11A	Autosomal recessive inheritance	HP:0000007
4361	MRE11A	Dysarthria	HP:0001260
4361	MRE11A	Distal amyotrophy	HP:0003693
4361	MRE11A	Lower limb spasticity	HP:0002061
4361	MRE11A	Telangiectasia	HP:0001009
4361	MRE11A	Hyporeflexia	HP:0001265
4361	MRE11A	Oculomotor apraxia	HP:0000657
4361	MRE11A	Gait ataxia	HP:0002066
4361	MRE11A	Multifactorial inheritance	HP:0001426
4361	MRE11A	Dystonia	HP:0001332
4361	MRE11A	Frequent falls	HP:0002359
4361	MRE11A	Chorea	HP:0002072
4361	MRE11A	Cerebellar atrophy	HP:0001272
4361	MRE11A	Breast carcinoma	HP:0003002
4361	MRE11A	Dysdiadochokinesis	HP:0002075
4361	MRE11A	Hypometric saccades	HP:0000571
4361	MRE11A	Impaired smooth pursuit	HP:0007772
4361	MRE11A	Progressive	HP:0003676
7225	TRPC6	Focal segmental glomerulosclerosis	HP:0000097
7225	TRPC6	Nephrotic syndrome	HP:0000100
7225	TRPC6	Proteinuria	HP:0000093
7225	TRPC6	Chronic kidney disease	HP:0012622
6768	ST14	Ichthyosis	HP:0008064
6768	ST14	Pili torti	HP:0003777
6768	ST14	Abnormal hair quantity	HP:0011362
6768	ST14	Curly hair	HP:0002212
6768	ST14	Photophobia	HP:0000613
6768	ST14	Hypohidrosis	HP:0000966
6768	ST14	Sparse hair	HP:0008070
6768	ST14	Congenital ichthyosiform erythroderma	HP:0007431
6768	ST14	Autosomal recessive inheritance	HP:0000007
6768	ST14	Blepharitis	HP:0000498
6768	ST14	Corneal opacity	HP:0007957
6768	ST14	Sparse eyebrow	HP:0000535
6768	ST14	Brittle hair	HP:0002299
10599	SLCO1B1	Abnormality of the liver	HP:0001392
10599	SLCO1B1	Abnormality of temperature regulation	HP:0004370
10599	SLCO1B1	Autosomal recessive inheritance	HP:0000007
10599	SLCO1B1	Abnormality of the gastric mucosa	HP:0004295
10599	SLCO1B1	Abnormality of skin pigmentation	HP:0001000
10599	SLCO1B1	Jaundice	HP:0000952
10599	SLCO1B1	Abdominal pain	HP:0002027
10599	SLCO1B1	Abnormality of the skeletal system	HP:0000924
10599	SLCO1B1	Conjugated hyperbilirubinemia	HP:0002908
57609	DIP2B	Intellectual disability	HP:0001249
3798	KIF5A	Pes cavus	HP:0001761
3798	KIF5A	Ataxia	HP:0001251
3798	KIF5A	Hyperreflexia	HP:0001347
3798	KIF5A	Phenotypic variability	HP:0003812
3798	KIF5A	Autosomal dominant inheritance	HP:0000006
3798	KIF5A	Spastic paraplegia	HP:0001258
3798	KIF5A	Urinary urgency	HP:0000012
3798	KIF5A	Lower limb muscle weakness	HP:0007340
3798	KIF5A	Spastic gait	HP:0002064
3798	KIF5A	Parkinsonism	HP:0001300
3798	KIF5A	Urinary incontinence	HP:0000020
3798	KIF5A	Impaired vibration sensation in the lower limbs	HP:0002166
3798	KIF5A	Urinary bladder sphincter dysfunction	HP:0002839
3798	KIF5A	Distal sensory impairment	HP:0002936
3798	KIF5A	Ankle clonus	HP:0011448
3798	KIF5A	Knee clonus	HP:0011449
3798	KIF5A	Scoliosis	HP:0002650
3798	KIF5A	Progressive	HP:0003676
3798	KIF5A	Babinski sign	HP:0003487
2799	GNS	Hepatomegaly	HP:0002240
2799	GNS	Absent speech	HP:0001344
2799	GNS	Drooling	HP:0002307
2799	GNS	Thickened ribs	HP:0000900
2799	GNS	Cellular metachromasia	HP:0003653
2799	GNS	Asymmetric septal hypertrophy	HP:0001670
2799	GNS	Autosomal recessive inheritance	HP:0000007
2799	GNS	Anteverted nares	HP:0000463
2799	GNS	Splenomegaly	HP:0001744
2799	GNS	Prominent forehead	HP:0011220
2799	GNS	Short neck	HP:0000470
2799	GNS	Frontal bossing	HP:0002007
2799	GNS	Synophrys	HP:0000664
2799	GNS	Coarse facial features	HP:0000280
2799	GNS	Wide mouth	HP:0000154
2799	GNS	Flexion contracture	HP:0001371
2799	GNS	Progressive	HP:0003676
2799	GNS	Diarrhea	HP:0002014
2799	GNS	Dysphagia	HP:0002015
2799	GNS	Depressed nasal bridge	HP:0005280
2799	GNS	Coarse hair	HP:0002208
2799	GNS	Intellectual disability	HP:0001249
2799	GNS	Seizures	HP:0001250
2799	GNS	Growth abnormality	HP:0001507
2799	GNS	Recurrent upper respiratory tract infections	HP:0002788
2799	GNS	Joint stiffness	HP:0001387
2799	GNS	Dysarthria	HP:0001260
2799	GNS	Ovoid thoracolumbar vertebrae	HP:0003309
2799	GNS	Hearing impairment	HP:0000365
2799	GNS	Heparan sulfate excretion in urine	HP:0002159
2799	GNS	Hirsutism	HP:0001007
2799	GNS	Dysostosis multiplex	HP:0000943
2799	GNS	Hyperactivity	HP:0000752
2799	GNS	Low-set ears	HP:0000369
2799	GNS	Thick lower lip vermilion	HP:0000179
2799	GNS	Sleep disturbance	HP:0002360
2799	GNS	Thick eyebrow	HP:0000574
79600	TCTN1	Macrocephaly	HP:0000256
79600	TCTN1	Autosomal recessive inheritance	HP:0000007
79600	TCTN1	Incoordination	HP:0002311
79600	TCTN1	Gait disturbance	HP:0001288
79600	TCTN1	Anophthalmia	HP:0000528
79600	TCTN1	Malar flattening	HP:0000272
79600	TCTN1	Long face	HP:0000276
79600	TCTN1	Dandy-Walker malformation	HP:0001305
79600	TCTN1	Epicanthus	HP:0000286
79600	TCTN1	Agenesis of cerebellar vermis	HP:0002335
79600	TCTN1	Hypoplasia of the corpus callosum	HP:0002079
79600	TCTN1	Retinal degeneration	HP:0000546
79600	TCTN1	Encephalocele	HP:0002084
79600	TCTN1	Foot polydactyly	HP:0001829
79600	TCTN1	Retinal dysplasia	HP:0007973
79600	TCTN1	Occipital encephalocele	HP:0002085
79600	TCTN1	Cerebellar vermis hypoplasia	HP:0001320
79600	TCTN1	Pulmonary hypoplasia	HP:0002089
79600	TCTN1	Retinal dystrophy	HP:0000556
79600	TCTN1	Respiratory insufficiency	HP:0002093
79600	TCTN1	Dyspnea	HP:0002094
79600	TCTN1	Tented upper lip vermilion	HP:0010804
79600	TCTN1	Micropenis	HP:0000054
79600	TCTN1	Hypertension	HP:0000822
79600	TCTN1	Central apnea	HP:0002871
79600	TCTN1	Chorioretinal coloboma	HP:0000567
79600	TCTN1	Bell-shaped thorax	HP:0001591
79600	TCTN1	Apnea	HP:0002104
79600	TCTN1	Protruding tongue	HP:0010808
79600	TCTN1	Microphthalmia	HP:0000568
79600	TCTN1	Tremor	HP:0001337
79600	TCTN1	Abnormality of saccadic eye movements	HP:0000570
79600	TCTN1	Episodic tachypnea	HP:0002876
79600	TCTN1	Hypertelorism	HP:0000316
79600	TCTN1	Hypoplasia of the brainstem	HP:0002365
79600	TCTN1	Ambiguous genitalia	HP:0000062
79600	TCTN1	Absent speech	HP:0001344
79600	TCTN1	Short philtrum	HP:0000322
79600	TCTN1	Hyperventilation	HP:0002883
79600	TCTN1	Breathing dysregulation	HP:0005957
79600	TCTN1	Optic nerve coloboma	HP:0000588
79600	TCTN1	Hemifacial spasm	HP:0010828
79600	TCTN1	Dysplastic corpus callosum	HP:0006989
79600	TCTN1	Coloboma	HP:0000589
79600	TCTN1	Narrow forehead	HP:0000341
79600	TCTN1	Enlarged fossa interpeduncularis	HP:0100951
79600	TCTN1	Scoliosis	HP:0002650
79600	TCTN1	Nephronophthisis	HP:0000090
79600	TCTN1	Impaired smooth pursuit	HP:0007772
79600	TCTN1	Abnormality of the hypothalamus-pituitary axis	HP:0000864
79600	TCTN1	Iris coloboma	HP:0000612
79600	TCTN1	Thickened superior cerebellar peduncle	HP:0002404
79600	TCTN1	Posteriorly rotated ears	HP:0000358
79600	TCTN1	Occipital myelomeningocele	HP:0007271
79600	TCTN1	Blindness	HP:0000618
79600	TCTN1	Renal cyst	HP:0000107
79600	TCTN1	Hyperechogenic kidneys	HP:0004719
79600	TCTN1	Low-set, posteriorly rotated ears	HP:0000368
79600	TCTN1	Intellectual disability, severe	HP:0010864
79600	TCTN1	Low-set ears	HP:0000369
79600	TCTN1	Molar tooth sign on MRI	HP:0002419
79600	TCTN1	Hepatic fibrosis	HP:0001395
79600	TCTN1	Cerebellar dysplasia	HP:0007033
79600	TCTN1	Posterior fossa cyst	HP:0007291
79600	TCTN1	Nystagmus	HP:0000639
79600	TCTN1	Bile duct proliferation	HP:0001408
79600	TCTN1	Syndactyly	HP:0001159
79600	TCTN1	Hand polydactyly	HP:0001161
79600	TCTN1	Postaxial hand polydactyly	HP:0001162
79600	TCTN1	Oculomotor apraxia	HP:0000657
79600	TCTN1	Heterogeneous	HP:0001425
79600	TCTN1	Dysgenesis of the cerebellar vermis	HP:0002195
79600	TCTN1	Sensorineural hearing impairment	HP:0000407
79600	TCTN1	Elongated superior cerebellar peduncle	HP:0011933
79600	TCTN1	Macroglossia	HP:0000158
79600	TCTN1	Situs inversus totalis	HP:0001696
79600	TCTN1	Postaxial polydactyly	HP:0100259
79600	TCTN1	Triangular-shaped open mouth	HP:0200096
79600	TCTN1	Prominent nasal bridge	HP:0000426
79600	TCTN1	Cognitive impairment	HP:0100543
79600	TCTN1	Stage 5 chronic kidney disease	HP:0003774
79600	TCTN1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
79600	TCTN1	Open mouth	HP:0000194
79600	TCTN1	Polydactyly	HP:0010442
79600	TCTN1	Oral cleft	HP:0000202
79600	TCTN1	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
79600	TCTN1	Aganglionic megacolon	HP:0002251
79600	TCTN1	Brainstem dysplasia	HP:0002508
79600	TCTN1	Single naris	HP:0009932
79600	TCTN1	Aggressive behavior	HP:0000718
79600	TCTN1	Anteverted nares	HP:0000463
79600	TCTN1	Prominent forehead	HP:0011220
79600	TCTN1	Abnormality of neuronal migration	HP:0002269
79600	TCTN1	Abnormality of the foot	HP:0001760
79600	TCTN1	Intellectual disability	HP:0001249
79600	TCTN1	Irritability	HP:0000737
79600	TCTN1	Seizures	HP:0001250
79600	TCTN1	Ataxia	HP:0001251
79600	TCTN1	Muscular hypotonia	HP:0001252
79600	TCTN1	Phenotypic variability	HP:0003812
79600	TCTN1	Tachypnea	HP:0002789
79600	TCTN1	Strabismus	HP:0000486
79600	TCTN1	Neonatal breathing dysregulation	HP:0002790
79600	TCTN1	Self-mutilation	HP:0000742
79600	TCTN1	Growth delay	HP:0001510
79600	TCTN1	Retinopathy	HP:0000488
79600	TCTN1	Deeply set eye	HP:0000490
79600	TCTN1	Hydrocephalus	HP:0000238
79600	TCTN1	Downslanted palpebral fissures	HP:0000494
79600	TCTN1	Global developmental delay	HP:0001263
79600	TCTN1	Hyperactivity	HP:0000752
79600	TCTN1	Abnormality of eye movement	HP:0000496
79600	TCTN1	Variable expressivity	HP:0003828
79600	TCTN1	Highly arched eyebrow	HP:0002553
79600	TCTN1	Congenital onset	HP:0003577
79600	TCTN1	Ptosis	HP:0000508
4842	NOS1	Autosomal recessive inheritance	HP:0000007
4842	NOS1	Keratoconjunctivitis sicca	HP:0001097
4842	NOS1	Xerostomia	HP:0000217
4842	NOS1	Rheumatoid arthritis	HP:0001370
4842	NOS1	Achalasia	HP:0002571
3242	HPD	Seizures	HP:0001250
3242	HPD	Abnormal hair quantity	HP:0011362
3242	HPD	Muscular hypotonia	HP:0001252
3242	HPD	Failure to thrive	HP:0001508
3242	HPD	Fine hair	HP:0002213
3242	HPD	Autosomal dominant inheritance	HP:0000006
3242	HPD	Autosomal recessive inheritance	HP:0000007
3242	HPD	Intellectual disability, mild	HP:0001256
3242	HPD	Abnormality of the liver	HP:0001392
3242	HPD	Hypothyroidism	HP:0000821
3242	HPD	Metabolic acidosis	HP:0001942
3242	HPD	4-Hydroxyphenylacetic aciduria	HP:0003607
3242	HPD	4-Hydroxyphenylpyruvic aciduria	HP:0003161
3242	HPD	Hypertyrosinemia	HP:0003231
2254	FGF9	Aplastic/hypoplastic toenail	HP:0010624
2254	FGF9	Abnormality of thumb phalanx	HP:0009602
2254	FGF9	Vertebral fusion	HP:0002948
2254	FGF9	Clinodactyly	HP:0030084
2254	FGF9	Brachydactyly syndrome	HP:0001156
2254	FGF9	Autosomal dominant inheritance	HP:0000006
2254	FGF9	Anonychia	HP:0001798
2254	FGF9	Absent distal interphalangeal creases	HP:0001032
2254	FGF9	Proximal symphalangism (hands)	HP:0006152
2254	FGF9	Dislocated radial head	HP:0003083
2254	FGF9	Abnormality of the vertebrae	HP:0003468
2254	FGF9	Hypoplastic spinal processes	HP:0008460
2254	FGF9	Narrow face	HP:0000275
2254	FGF9	Conductive hearing impairment	HP:0000405
2254	FGF9	Cubitus valgus	HP:0002967
2254	FGF9	Enlargement of the costochondral junction	HP:0000920
2254	FGF9	Progressive conductive hearing impairment	HP:0008607
2254	FGF9	Short humerus	HP:0005792
2254	FGF9	Metatarsal synostosis	HP:0001440
2254	FGF9	Fusion of midphalangeal joints	HP:0006187
2254	FGF9	Symphalangism affecting the phalanges of the hand	HP:0009773
2254	FGF9	Underdeveloped nasal alae	HP:0000430
2254	FGF9	Absent distal phalanges	HP:0005807
2254	FGF9	Tarsal synostosis	HP:0008368
2254	FGF9	Single transverse palmar crease	HP:0000954
2254	FGF9	Cutaneous finger syndactyly	HP:0010554
2254	FGF9	Wide nose	HP:0000445
2254	FGF9	Abnormality of the nail	HP:0001597
2254	FGF9	Short philtrum	HP:0000322
2254	FGF9	Facial asymmetry	HP:0000324
2254	FGF9	2-3 toe syndactyly	HP:0004691
2254	FGF9	Waddling gait	HP:0002515
2254	FGF9	Cone-shaped epiphysis	HP:0010579
2254	FGF9	Thick upper lip vermilion	HP:0000215
2254	FGF9	Spinal canal stenosis	HP:0003416
2254	FGF9	Lower limb undergrowth	HP:0009816
2254	FGF9	Thin upper lip vermilion	HP:0000219
2254	FGF9	Limitation of joint mobility	HP:0001376
2254	FGF9	Humeroradial synostosis	HP:0003041
2254	FGF9	Synostosis involving bones of the fingers	HP:0009700
2254	FGF9	Metacarpal synostosis	HP:0009701
2254	FGF9	Carpal synostosis	HP:0009702
2254	FGF9	Strabismus	HP:0000486
2254	FGF9	Short foot	HP:0001773
2254	FGF9	Short sternum	HP:0000879
2254	FGF9	Hypoplastic nasal septum	HP:0005104
2254	FGF9	Short lower limbs	HP:0006385
2254	FGF9	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0009843
2254	FGF9	Radial deviation of finger	HP:0009466
2254	FGF9	Short hallux	HP:0010109
2254	FGF9	Stapes ankylosis	HP:0000381
2254	FGF9	Pectus excavatum	HP:0000767
6049	RNF6	Weight loss	HP:0001824
6049	RNF6	Nausea and vomiting	HP:0002017
6049	RNF6	Autosomal dominant inheritance	HP:0000006
6049	RNF6	Abnormality of the voice	HP:0001608
6049	RNF6	Feeding difficulties in infancy	HP:0008872
6049	RNF6	Chest pain	HP:0100749
6049	RNF6	Lymphadenopathy	HP:0002716
6049	RNF6	Squamous cell carcinoma	HP:0002860
6049	RNF6	Esophageal neoplasm	HP:0100751
9365	KL	Increased renal tubular phosphate reabsorption	HP:0005571
9365	KL	Decreased renal tubular phosphate excretion	HP:0005572
9365	KL	Juvenile onset	HP:0003621
9365	KL	Vascular calcification	HP:0004934
9365	KL	Autosomal recessive inheritance	HP:0000007
9365	KL	Taurodontia	HP:0000679
9365	KL	Angioid streaks of the retina	HP:0001102
9365	KL	Calcinosis	HP:0003761
9365	KL	Abnormality of the skin	HP:0000951
9365	KL	Conjunctival whitish salt-like deposits	HP:0007799
9365	KL	Nephrocalcinosis	HP:0000121
9365	KL	Hypoplasia of dental enamel	HP:0006297
9365	KL	Hyperphosphatemia	HP:0002905
9365	KL	Pulp stones	HP:0003771
84189	SLITRK6	Progressive hearing impairment	HP:0001730
84189	SLITRK6	Autosomal dominant inheritance	HP:0000006
84189	SLITRK6	Autosomal recessive inheritance	HP:0000007
84189	SLITRK6	Childhood onset	HP:0011463
84189	SLITRK6	Infantile onset	HP:0003593
84189	SLITRK6	Prelingual sensorineural hearing impairment	HP:0000399
84189	SLITRK6	Absence of acoustic reflex	HP:0008529
84189	SLITRK6	Vertigo	HP:0002321
84189	SLITRK6	Profound sensorineural hearing impairment	HP:0011476
84189	SLITRK6	Conductive hearing impairment	HP:0000405
84189	SLITRK6	Hematuria	HP:0000790
84189	SLITRK6	Sensorineural hearing impairment	HP:0000407
84189	SLITRK6	Vestibular dysfunction	HP:0001751
84189	SLITRK6	Progressive sensorineural hearing impairment	HP:0000408
84189	SLITRK6	Congenital stationary night blindness	HP:0007642
84189	SLITRK6	Vestibular hypofunction	HP:0001756
84189	SLITRK6	Proteinuria	HP:0000093
84189	SLITRK6	Abnormality of the eye	HP:0000478
84189	SLITRK6	Nonprogressive	HP:0003680
84189	SLITRK6	Intellectual disability	HP:0001249
84189	SLITRK6	Myopia	HP:0000545
84189	SLITRK6	Digenic inheritance	HP:0010984
84189	SLITRK6	Profound hearing impairment	HP:0012715
84189	SLITRK6	Bilateral sensorineural hearing impairment	HP:0008619
84189	SLITRK6	Hearing impairment	HP:0000365
84189	SLITRK6	Delayed speech and language development	HP:0000750
84189	SLITRK6	Absent brainstem auditory responses	HP:0004463
84189	SLITRK6	Severe sensorineural hearing impairment	HP:0008625
84189	SLITRK6	Motor delay	HP:0001270
84189	SLITRK6	Incomplete partition of the cochlea type II	HP:0000376
84189	SLITRK6	Vestibular areflexia	HP:0008568
84189	SLITRK6	Congenital onset	HP:0003577
84189	SLITRK6	Enlarged vestibular aqueduct	HP:0011387
84189	SLITRK6	Severe Myopia	HP:0011003
84189	SLITRK6	Rod-cone dystrophy	HP:0000510
7546	ZIC2	Duodenal stenosis	HP:0100867
7546	ZIC2	Autosomal dominant inheritance	HP:0000006
7546	ZIC2	Macrotia	HP:0000400
7546	ZIC2	Anophthalmia	HP:0000528
7546	ZIC2	Midnasal stenosis	HP:0010644
7546	ZIC2	Prominent median palatal raphe	HP:0002708
7546	ZIC2	Synophrys	HP:0000664
7546	ZIC2	Depressed nasal bridge	HP:0005280
7546	ZIC2	Hypoplasia of penis	HP:0008736
7546	ZIC2	Single median maxillary incisor	HP:0006315
7546	ZIC2	Cleft palate	HP:0000175
7546	ZIC2	Specific learning disability	HP:0001328
7546	ZIC2	Asthma	HP:0002099
7546	ZIC2	Tented upper lip vermilion	HP:0010804
7546	ZIC2	Torus palatinus	HP:0100789
7546	ZIC2	Hypothyroidism	HP:0000821
7546	ZIC2	Abnormality of the skin	HP:0000951
7546	ZIC2	Microphthalmia	HP:0000568
7546	ZIC2	Growth hormone deficiency	HP:0000824
7546	ZIC2	Cyclopia	HP:0009914
7546	ZIC2	Hypertelorism	HP:0000316
7546	ZIC2	Ambiguous genitalia	HP:0000062
7546	ZIC2	Narrow nasal bridge	HP:0000446
7546	ZIC2	Cognitive impairment	HP:0100543
7546	ZIC2	Anterior hypopituitarism	HP:0000830
7546	ZIC2	Short philtrum	HP:0000322
7546	ZIC2	Choanal atresia	HP:0000453
7546	ZIC2	Upslanted palpebral fissure	HP:0000582
7546	ZIC2	Maternal diabetes	HP:0009800
7546	ZIC2	Oral cleft	HP:0000202
7546	ZIC2	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
7546	ZIC2	Anosmia	HP:0000458
7546	ZIC2	Abnormality of the nasopharynx	HP:0001739
7546	ZIC2	Cleft upper lip	HP:0000204
7546	ZIC2	Coloboma	HP:0000589
7546	ZIC2	Abnormal facial shape	HP:0001999
7546	ZIC2	Anteverted nares	HP:0000463
7546	ZIC2	Holoprosencephaly	HP:0001360
7546	ZIC2	Narrow forehead	HP:0000341
7546	ZIC2	Premature birth	HP:0001622
7546	ZIC2	Hypotelorism	HP:0000601
7546	ZIC2	High palate	HP:0000218
7546	ZIC2	Scoliosis	HP:0002650
7546	ZIC2	Vertebral segmentation defect	HP:0003422
7546	ZIC2	Intellectual disability	HP:0001249
7546	ZIC2	Short stature	HP:0004322
7546	ZIC2	Seizures	HP:0001250
7546	ZIC2	Tetralogy of Fallot	HP:0001636
7546	ZIC2	Abnormality of chromosome segregation	HP:0002916
7546	ZIC2	Iris coloboma	HP:0000612
7546	ZIC2	Strabismus	HP:0000486
7546	ZIC2	Renal hypoplasia/aplasia	HP:0008678
7546	ZIC2	Intrauterine growth retardation	HP:0001511
7546	ZIC2	Intellectual disability, mild	HP:0001256
7546	ZIC2	Hydrocephalus	HP:0000238
7546	ZIC2	Global developmental delay	HP:0001263
7546	ZIC2	Trigonocephaly	HP:0000243
7546	ZIC2	Variable expressivity	HP:0003828
7546	ZIC2	Microcephaly	HP:0000252
7546	ZIC2	Short nose	HP:0003196
283489	CHAMP1	Feeding difficulties	HP:0011968
283489	CHAMP1	Impaired pain sensation	HP:0007328
283489	CHAMP1	Open mouth	HP:0000194
283489	CHAMP1	Short philtrum	HP:0000322
283489	CHAMP1	Gastroesophageal reflux	HP:0002020
283489	CHAMP1	Muscular hypotonia	HP:0001252
283489	CHAMP1	Upslanted palpebral fissure	HP:0000582
283489	CHAMP1	Strabismus	HP:0000486
283489	CHAMP1	Joint hypermobility	HP:0001382
283489	CHAMP1	Everted lower lip vermilion	HP:0000232
283489	CHAMP1	Global developmental delay	HP:0001263
283489	CHAMP1	Low-set ears	HP:0000369
283489	CHAMP1	Gait ataxia	HP:0002066
283489	CHAMP1	Pointed chin	HP:0000307
283489	CHAMP1	Long face	HP:0000276
283489	CHAMP1	Tented upper lip vermilion	HP:0010804
283489	CHAMP1	High palate	HP:0000218
283489	CHAMP1	Microcephaly	HP:0000252
283489	CHAMP1	Hypermetropia	HP:0000540
283489	CHAMP1	Recurrent respiratory infections	HP:0002205
283489	CHAMP1	Stereotypic behavior	HP:0000733
283489	CHAMP1	Epicanthus	HP:0000286
57697	FANCM	Umbilical hernia	HP:0001537
57697	FANCM	Duodenal stenosis	HP:0100867
57697	FANCM	Cataract	HP:0000518
57697	FANCM	Autosomal recessive inheritance	HP:0000007
57697	FANCM	Abnormality of the femur	HP:0002823
57697	FANCM	Proptosis	HP:0000520
57697	FANCM	Abnormality of female internal genitalia	HP:0000008
57697	FANCM	Infantile onset	HP:0003593
57697	FANCM	Recurrent urinary tract infections	HP:0000010
57697	FANCM	Dolichocephaly	HP:0000268
57697	FANCM	Tracheoesophageal fistula	HP:0002575
57697	FANCM	Displacement of the external urethral meatus	HP:0100627
57697	FANCM	Vitiligo	HP:0001045
57697	FANCM	Biliary atresia	HP:0005912
57697	FANCM	Functional abnormality of male internal genitalia	HP:0000025
57697	FANCM	Oligohydramnios	HP:0001562
57697	FANCM	Cryptorchidism	HP:0000028
57697	FANCM	Hypopigmented skin patches	HP:0001053
57697	FANCM	Epicanthus	HP:0000286
57697	FANCM	Weight loss	HP:0001824
57697	FANCM	Squamous cell carcinoma	HP:0002860
57697	FANCM	Hypergonadotropic hypogonadism	HP:0000815
57697	FANCM	Myelodysplasia	HP:0002863
57697	FANCM	Absent thumb	HP:0009777
57697	FANCM	Short thumb	HP:0009778
57697	FANCM	Aplasia/Hypoplasia of the uvula	HP:0010293
57697	FANCM	Micropenis	HP:0000054
57697	FANCM	Microphthalmia	HP:0000568
57697	FANCM	Hypertelorism	HP:0000316
57697	FANCM	Hyperreflexia	HP:0001347
57697	FANCM	Facial asymmetry	HP:0000324
57697	FANCM	Medulloblastoma	HP:0002885
57697	FANCM	Blepharophimosis	HP:0000581
57697	FANCM	Upslanted palpebral fissure	HP:0000582
57697	FANCM	Ventriculomegaly	HP:0002119
57697	FANCM	Thrombocytopenia	HP:0001873
57697	FANCM	Duplicated collecting system	HP:0000081
57697	FANCM	Neutropenia	HP:0001875
57697	FANCM	Renal insufficiency	HP:0000083
57697	FANCM	Pancytopenia	HP:0001876
57697	FANCM	Sloping forehead	HP:0000340
57697	FANCM	Horseshoe kidney	HP:0000085
57697	FANCM	Ectopic kidney	HP:0000086
57697	FANCM	Renal hypoplasia	HP:0000089
57697	FANCM	Scoliosis	HP:0002650
57697	FANCM	Leukopenia	HP:0001882
57697	FANCM	Micrognathia	HP:0000347
57697	FANCM	Ventricular septal defect	HP:0001629
57697	FANCM	Atria septal defect	HP:0001631
57697	FANCM	Abnormality of the hypothalamus-pituitary axis	HP:0000864
57697	FANCM	Tetralogy of Fallot	HP:0001636
57697	FANCM	Aplasia/Hypoplasia of the radius	HP:0006501
57697	FANCM	Microtia	HP:0008551
57697	FANCM	Hypertrophic cardiomyopathy	HP:0001639
57697	FANCM	Reticulocytopenia	HP:0001896
57697	FANCM	Renal agenesis	HP:0000104
57697	FANCM	Nephroblastoma (Wilms tumor)	HP:0002667
57697	FANCM	Patent ductus arteriosus	HP:0001643
57697	FANCM	Renal cyst	HP:0000107
57697	FANCM	Hearing impairment	HP:0000365
57697	FANCM	Abnormality of the aortic valve	HP:0001646
57697	FANCM	Spina bifida	HP:0002414
57697	FANCM	Anemia	HP:0001903
57697	FANCM	Abnormality of the liver	HP:0001392
57697	FANCM	Clinodactyly of the 5th finger	HP:0004209
57697	FANCM	Low-set ears	HP:0000369
57697	FANCM	Leukemia	HP:0001909
57697	FANCM	Aplasia/Hypoplasia of the iris	HP:0008053
57697	FANCM	Aplastic anemia	HP:0001915
57697	FANCM	External ear malformation	HP:0008572
57697	FANCM	Lung segmentation defects	HP:0006525
57697	FANCM	Pelvic kidney	HP:0000125
57697	FANCM	Hydronephrosis	HP:0000126
57697	FANCM	Nystagmus	HP:0000639
57697	FANCM	Absent radius	HP:0003974
57697	FANCM	X-linked recessive inheritance	HP:0001419
57697	FANCM	Abnormality of the vertebrae	HP:0003468
57697	FANCM	Multiple cafe-au-lait spots	HP:0007565
57697	FANCM	Deficient excision of UV-induced pyrimidine dimers in DNA	HP:0003213
57697	FANCM	Prolonged G2 phase of cell cycle	HP:0003214
57697	FANCM	Abnormality of the aorta	HP:0001679
57697	FANCM	Abnormality of chromosome stability	HP:0003220
57697	FANCM	Abnormality of the thumb	HP:0001172
57697	FANCM	Chromosomal breakage induced by crosslinking agents	HP:0003221
57697	FANCM	Bone marrow hypocellularity	HP:0005528
57697	FANCM	Clubbing of toes	HP:0100760
57697	FANCM	Bulbous nose	HP:0000414
57697	FANCM	Depressed nasal bridge	HP:0005280
57697	FANCM	Cranial nerve paralysis	HP:0006824
57697	FANCM	Hypoplasia of the radius	HP:0002984
57697	FANCM	External genital hypoplasia	HP:0003241
57697	FANCM	Cleft palate	HP:0000175
57697	FANCM	Wide nasal bridge	HP:0000431
57697	FANCM	Triphalangeal thumb	HP:0001199
57697	FANCM	Abnormal renal morphology	HP:0012210
57697	FANCM	Abnormality of the ulna	HP:0002997
57697	FANCM	Arteriovenous malformation	HP:0100026
57697	FANCM	Cafe-au-lait spot	HP:0000957
57697	FANCM	Neuroblastoma	HP:0003006
57697	FANCM	Cognitive impairment	HP:0100543
57697	FANCM	Stage 5 chronic kidney disease	HP:0003774
57697	FANCM	Abnormal localization of kidney	HP:0100542
57697	FANCM	Postnatal growth retardation	HP:0008897
57697	FANCM	Choanal atresia	HP:0000453
57697	FANCM	Meckel diverticulum	HP:0002245
57697	FANCM	Abnormality of the hip bone	HP:0003272
57697	FANCM	Short palpebral fissure	HP:0012745
57697	FANCM	Aganglionic megacolon	HP:0002251
57697	FANCM	Abnormal facial shape	HP:0001999
57697	FANCM	Bruising susceptibility	HP:0000978
57697	FANCM	Finger syndactyly	HP:0006101
57697	FANCM	Short neck	HP:0000470
57697	FANCM	Duplication of thumb phalanx	HP:0009942
57697	FANCM	Complete duplication of thumb phalanx	HP:0009943
57697	FANCM	Frontal bossing	HP:0002007
57697	FANCM	Abnormality of cardiovascular system morphology	HP:0030680
57697	FANCM	Abnormality of the carotid arteries	HP:0005344
57697	FANCM	Intellectual disability	HP:0001249
57697	FANCM	Short stature	HP:0004322
57697	FANCM	Pes planus	HP:0001763
57697	FANCM	Astigmatism	HP:0000483
57697	FANCM	Phenotypic variability	HP:0003812
57697	FANCM	Strabismus	HP:0000486
57697	FANCM	Renal hypoplasia/aplasia	HP:0008678
57697	FANCM	Growth delay	HP:0001510
57697	FANCM	Intrauterine growth retardation	HP:0001511
57697	FANCM	Anal atresia	HP:0002023
57697	FANCM	Abnormality of skin pigmentation	HP:0001000
57697	FANCM	Irregular hyperpigmentation	HP:0007400
57697	FANCM	Toe syndactyly	HP:0001770
57697	FANCM	Abnormality of the preputium	HP:0100587
57697	FANCM	Urogenital fistula	HP:0100589
57697	FANCM	Small for gestational age	HP:0001518
57697	FANCM	Hydrocephalus	HP:0000238
57697	FANCM	Global developmental delay	HP:0001263
57697	FANCM	Esophageal atresia	HP:0002032
57697	FANCM	Variable expressivity	HP:0003828
57697	FANCM	Anemic pallor	HP:0001017
57697	FANCM	Visual impairment	HP:0000505
57697	FANCM	Microcephaly	HP:0000252
57697	FANCM	Ptosis	HP:0000508
57697	FANCM	Reduced bone mineral density	HP:0004349
51199	NIN	Prominent nose	HP:0000448
51199	NIN	Seizures	HP:0001250
51199	NIN	Abnormality of the carpal bones	HP:0001191
51199	NIN	Microtia	HP:0008551
51199	NIN	Intrauterine growth retardation	HP:0001511
51199	NIN	Autosomal recessive inheritance	HP:0000007
51199	NIN	Hip dysplasia	HP:0001385
51199	NIN	Central hypothyroidism	HP:0011787
51199	NIN	Severe global developmental delay	HP:0011344
51199	NIN	Intellectual disability, severe	HP:0010864
51199	NIN	Lumbar scoliosis	HP:0004626
51199	NIN	Primary amenorrhea	HP:0000786
51199	NIN	Severe short stature	HP:0003510
51199	NIN	Hypotelorism	HP:0000601
51199	NIN	Madelung deformity	HP:0003067
51199	NIN	Microcephaly	HP:0000252
51199	NIN	Delayed skeletal maturation	HP:0002750
112752	IFT43	Macrocephaly	HP:0000256
112752	IFT43	Protuberant abdomen	HP:0001538
112752	IFT43	Short ribs	HP:0000773
112752	IFT43	Narrow chest	HP:0000774
112752	IFT43	Short nail	HP:0001799
112752	IFT43	Autosomal recessive inheritance	HP:0000007
112752	IFT43	Dolichocephaly	HP:0000268
112752	IFT43	Prominent occiput	HP:0000269
112752	IFT43	Inguinal hernia	HP:0000023
112752	IFT43	Thin nail	HP:0001816
112752	IFT43	Hypermetropia	HP:0000540
112752	IFT43	Broad nail	HP:0001821
112752	IFT43	Epicanthus	HP:0000286
112752	IFT43	Myopia	HP:0000545
112752	IFT43	Full cheeks	HP:0000293
112752	IFT43	Short toe	HP:0001831
112752	IFT43	Retinal dystrophy	HP:0000556
112752	IFT43	Broad toe	HP:0001837
112752	IFT43	Cutaneous finger syndactyly	HP:0010554
112752	IFT43	Abnormality of dentin	HP:0010299
112752	IFT43	Hypertelorism	HP:0000316
112752	IFT43	Smooth philtrum	HP:0000319
112752	IFT43	Blepharophimosis	HP:0000581
112752	IFT43	Reduced number of teeth	HP:0009804
112752	IFT43	Chronic kidney disease	HP:0012622
112752	IFT43	Craniosynostosis	HP:0001363
112752	IFT43	Hypocalcemia	HP:0002901
112752	IFT43	Hypotelorism	HP:0000601
112752	IFT43	Sagittal craniosynostosis	HP:0004442
112752	IFT43	Nephronophthisis	HP:0000090
112752	IFT43	Micrognathia	HP:0000347
112752	IFT43	Limb undergrowth	HP:0009826
112752	IFT43	Abnormal hair quantity	HP:0011362
112752	IFT43	Joint hypermobility	HP:0001382
112752	IFT43	Peripheral pulmonary artery stenosis	HP:0004969
112752	IFT43	Hip dysplasia	HP:0001385
112752	IFT43	Joint laxity	HP:0001388
112752	IFT43	Broad distal phalanx of finger	HP:0009836
112752	IFT43	Bicuspid aortic valve	HP:0001647
112752	IFT43	Nephropathy	HP:0000112
112752	IFT43	Clinodactyly of the 5th finger	HP:0004209
112752	IFT43	Low-set ears	HP:0000369
112752	IFT43	Cirrhosis	HP:0001394
112752	IFT43	Hepatic fibrosis	HP:0001395
112752	IFT43	Hepatic failure	HP:0001399
112752	IFT43	Abnormality of the pinna	HP:0000377
112752	IFT43	Nystagmus	HP:0000639
112752	IFT43	Hepatic cysts	HP:0001407
112752	IFT43	Brachydactyly syndrome	HP:0001156
112752	IFT43	Recurrent pneumonia	HP:0006532
112752	IFT43	Sparse hair	HP:0008070
112752	IFT43	Syndactyly	HP:0001159
112752	IFT43	Bone marrow hypocellularity	HP:0005528
112752	IFT43	Broad distal phalanges of all fingers	HP:0009880
112752	IFT43	Hypoplasia of dental enamel	HP:0006297
112752	IFT43	Short distal phalanx of finger	HP:0009882
112752	IFT43	Protruding ear	HP:0000411
112752	IFT43	Hypodontia	HP:0000668
112752	IFT43	Short humerus	HP:0005792
112752	IFT43	Anodontia	HP:0000674
112752	IFT43	Malformation of the hepatic ductal plate	HP:0006563
112752	IFT43	Fine hair	HP:0002213
112752	IFT43	Taurodontia	HP:0000679
112752	IFT43	Slow-growing hair	HP:0002217
112752	IFT43	Osteoporosis	HP:0000939
112752	IFT43	Abnormal diaphysis morphology	HP:0000940
112752	IFT43	Hypoplasia of teeth	HP:0000685
112752	IFT43	Widely spaced teeth	HP:0000687
112752	IFT43	Wide nasal bridge	HP:0000431
112752	IFT43	Abnormality of the metaphyses	HP:0000944
112752	IFT43	Tubulointerstitial nephritis	HP:0001970
112752	IFT43	Microdontia	HP:0000691
112752	IFT43	Single transverse palmar crease	HP:0000954
112752	IFT43	Dry skin	HP:0000958
112752	IFT43	Stage 5 chronic kidney disease	HP:0003774
112752	IFT43	Broad phalanx of the toes	HP:0010174
112752	IFT43	Renal magnesium wasting	HP:0005567
112752	IFT43	Hepatomegaly	HP:0002240
112752	IFT43	Abnormality of the toenails	HP:0008388
112752	IFT43	Ectodermal dysplasia	HP:0000968
112752	IFT43	Rhizomelia	HP:0008905
112752	IFT43	Abnormality of the abdominal wall	HP:0004298
112752	IFT43	Cutis laxa	HP:0000973
112752	IFT43	Anteverted nares	HP:0000463
112752	IFT43	Abnormality of the fingernails	HP:0001231
112752	IFT43	Finger syndactyly	HP:0006101
112752	IFT43	Short neck	HP:0000470
112752	IFT43	Frontal bossing	HP:0002007
112752	IFT43	High palate	HP:0000218
112752	IFT43	Fibular hypoplasia	HP:0003038
112752	IFT43	Short stature	HP:0004322
112752	IFT43	Everted lower lip vermilion	HP:0000232
112752	IFT43	Thin vermilion border	HP:0000233
112752	IFT43	Telecanthus	HP:0000506
112752	IFT43	Radial deviation of finger	HP:0009466
112752	IFT43	Reduced bone mineral density	HP:0004349
112752	IFT43	Rod-cone dystrophy	HP:0000510
112752	IFT43	Pectus excavatum	HP:0000767
112752	IFT43	Flattened epiphysis	HP:0003071
10516	FBLN5	Umbilical hernia	HP:0001537
10516	FBLN5	Autosomal dominant inheritance	HP:0000006
10516	FBLN5	Congenital cataract	HP:0000519
10516	FBLN5	Prominence of the premaxilla	HP:0010759
10516	FBLN5	Autosomal recessive inheritance	HP:0000007
10516	FBLN5	Proptosis	HP:0000520
10516	FBLN5	Congenital diaphragmatic hernia	HP:0000776
10516	FBLN5	Recurrent urinary tract infections	HP:0000010
10516	FBLN5	Hip dislocation	HP:0002827
10516	FBLN5	Overgrowth	HP:0001548
10516	FBLN5	Delayed cranial suture closure	HP:0000270
10516	FBLN5	Arachnodactyly	HP:0001166
10516	FBLN5	Abnormality of the face	HP:0000271
10516	FBLN5	Atelectasis	HP:0100750
10516	FBLN5	Bladder diverticulum	HP:0000015
10516	FBLN5	Heterogeneous	HP:0001425
10516	FBLN5	Corneal opacity	HP:0007957
10516	FBLN5	Inguinal hernia	HP:0000023
10516	FBLN5	Oligohydramnios	HP:0001562
10516	FBLN5	Protruding ear	HP:0000411
10516	FBLN5	Arrhythmia	HP:0011675
10516	FBLN5	Adducted thumb	HP:0001181
10516	FBLN5	Supravalvular aortic stenosis	HP:0004381
10516	FBLN5	Recurrent respiratory infections	HP:0002205
10516	FBLN5	Bulbous nose	HP:0000414
10516	FBLN5	Depressed nasal bridge	HP:0005280
10516	FBLN5	Abnormality of adipose tissue	HP:0009124
10516	FBLN5	Full cheeks	HP:0000293
10516	FBLN5	Osteopenia	HP:0000938
10516	FBLN5	Respiratory insufficiency	HP:0002093
10516	FBLN5	Redundant skin	HP:0001582
10516	FBLN5	Emphysema	HP:0002097
10516	FBLN5	Hypothyroidism	HP:0000821
10516	FBLN5	Hernia	HP:0100790
10516	FBLN5	Aneurysm	HP:0002617
10516	FBLN5	Convex nasal ridge	HP:0000444
10516	FBLN5	Hypertelorism	HP:0000316
10516	FBLN5	Aortic dilatation	HP:0001724
10516	FBLN5	Abnormality of the pulmonary artery	HP:0004414
10516	FBLN5	Pulmonary artery dilatation	HP:0004927
10516	FBLN5	Feeding difficulties	HP:0011968
10516	FBLN5	Arterial stenosis	HP:0100545
10516	FBLN5	Brisk reflexes	HP:0001348
10516	FBLN5	Triangular face	HP:0000325
10516	FBLN5	Recurrent fractures	HP:0002757
10516	FBLN5	Premature skin wrinkling	HP:0100678
10516	FBLN5	Prematurely aged appearance	HP:0007495
10516	FBLN5	Ascending aortic aneurysm	HP:0002631
10516	FBLN5	Pulmonary artery aneurysm	HP:0004937
10516	FBLN5	Hernia of the abdominal wall	HP:0004299
10516	FBLN5	Pulmonary insufficiency	HP:0010444
10516	FBLN5	Vesicoureteral reflux	HP:0000076
10516	FBLN5	Cutis laxa	HP:0000973
10516	FBLN5	Aortic aneurysm	HP:0004942
10516	FBLN5	Broad forehead	HP:0000337
10516	FBLN5	Soft skin	HP:0000977
10516	FBLN5	Prominent forehead	HP:0011220
10516	FBLN5	Vascular tortuosity	HP:0004948
10516	FBLN5	Wormian bones	HP:0002645
10516	FBLN5	Autistic behavior	HP:0000729
10516	FBLN5	High palate	HP:0000218
10516	FBLN5	Scoliosis	HP:0002650
10516	FBLN5	Micrognathia	HP:0000347
10516	FBLN5	Generalized arterial tortuosity	HP:0004955
10516	FBLN5	Intestinal obstruction	HP:0005214
10516	FBLN5	Macular degeneration	HP:0000608
10516	FBLN5	Small palpebral fissure	HP:0045025
10516	FBLN5	Talipes equinovarus	HP:0001762
10516	FBLN5	Congestive heart failure	HP:0001635
10516	FBLN5	Muscular hypotonia	HP:0001252
10516	FBLN5	Strabismus	HP:0000486
10516	FBLN5	Joint hypermobility	HP:0001382
10516	FBLN5	Bowel diverticulosis	HP:0005222
10516	FBLN5	Intrauterine growth retardation	HP:0001511
10516	FBLN5	Abnormality of the pulmonary valve	HP:0001641
10516	FBLN5	Joint laxity	HP:0001388
10516	FBLN5	Downslanted palpebral fissures	HP:0000494
10516	FBLN5	Abnormality of the aortic valve	HP:0001646
10516	FBLN5	Global developmental delay	HP:0001263
10516	FBLN5	Low-set ears	HP:0000369
10516	FBLN5	Choroidal neovascularization of the macula	HP:0011506
10516	FBLN5	Small foramen magnum	HP:0002677
10516	FBLN5	Mitral regurgitation	HP:0001653
10516	FBLN5	Drusen	HP:0011510
10516	FBLN5	Dilatation of the ascending aorta	HP:0005111
10516	FBLN5	Abnormality of the pinna	HP:0000377
10516	FBLN5	Unilateral renal agenesis	HP:0000122
10516	FBLN5	Aortic regurgitation	HP:0001659
10516	FBLN5	Microcephaly	HP:0000252
10516	FBLN5	Arterial tortuosity	HP:0005116
10516	FBLN5	Ptosis	HP:0000508
10516	FBLN5	Reduced bone mineral density	HP:0004349
10516	FBLN5	Bradycardia	HP:0001662
10516	FBLN5	Pectus excavatum	HP:0000767
9321	TRIP11	Macrocephaly	HP:0000256
9321	TRIP11	Disproportionate short-trunk short stature	HP:0003521
9321	TRIP11	Umbilical hernia	HP:0001537
9321	TRIP11	Protuberant abdomen	HP:0001538
9321	TRIP11	Short thorax	HP:0010306
9321	TRIP11	Brachydactyly syndrome	HP:0001156
9321	TRIP11	Recurrent fractures	HP:0002757
9321	TRIP11	Short ribs	HP:0000773
9321	TRIP11	Narrow chest	HP:0000774
9321	TRIP11	Autosomal recessive inheritance	HP:0000007
9321	TRIP11	Anteverted nares	HP:0000463
9321	TRIP11	Malar flattening	HP:0000272
9321	TRIP11	Barrel-shaped chest	HP:0001552
9321	TRIP11	Broad clavicles	HP:0000916
9321	TRIP11	Short neck	HP:0000470
9321	TRIP11	Long philtrum	HP:0000343
9321	TRIP11	Frontal bossing	HP:0002007
9321	TRIP11	Polyhydramnios	HP:0001561
9321	TRIP11	Abnormality of the femoral metaphysis	HP:0006489
9321	TRIP11	Thickened nuchal skin fold	HP:0000474
9321	TRIP11	Micrognathia	HP:0000347
9321	TRIP11	Beaded ribs	HP:0000923
9321	TRIP11	Skeletal dysplasia	HP:0002652
9321	TRIP11	Cystic hygroma	HP:0000476
9321	TRIP11	Depressed nasal bridge	HP:0005280
9321	TRIP11	Abnormal hand bone ossification	HP:0010660
9321	TRIP11	Short toe	HP:0001831
9321	TRIP11	Micromelia	HP:0002983
9321	TRIP11	Hypoplastic ischia	HP:0003175
9321	TRIP11	Hypoplasia of the radius	HP:0002984
9321	TRIP11	Decreased skull ossification	HP:0004331
9321	TRIP11	Aplasia/Hypoplasia of the lungs	HP:0006703
9321	TRIP11	Hypoplastic scapulae	HP:0000882
9321	TRIP11	Stillbirth	HP:0003826
9321	TRIP11	Abnormal foot bone ossification	HP:0010675
9321	TRIP11	Abnormality of bone mineral density	HP:0004348
9321	TRIP11	Short nose	HP:0003196
9321	TRIP11	Hydrops fetalis	HP:0001789
9321	TRIP11	Unossified vertebral bodies	HP:0004606
9321	TRIP11	Short clavicles	HP:0000894
7443	VRK1	Deviation of finger	HP:0004097
7443	VRK1	Skeletal muscle atrophy	HP:0003202
7443	VRK1	Spastic tetraparesis	HP:0001285
7443	VRK1	Autosomal recessive inheritance	HP:0000007
7443	VRK1	Cerebral atrophy	HP:0002059
7443	VRK1	Hip dislocation	HP:0002827
7443	VRK1	Oculomotor apraxia	HP:0000657
7443	VRK1	Tongue fasciculations	HP:0001308
7443	VRK1	Hypoplasia of the corpus callosum	HP:0002079
7443	VRK1	Feeding difficulties in infancy	HP:0008872
7443	VRK1	Cerebellar vermis hypoplasia	HP:0001320
7443	VRK1	Cerebellar hypoplasia	HP:0001321
7443	VRK1	Muscle weakness	HP:0001324
7443	VRK1	Retinal dystrophy	HP:0000556
7443	VRK1	Respiratory insufficiency	HP:0002093
7443	VRK1	Cerebellar cyst	HP:0002350
7443	VRK1	Tongue atrophy	HP:0012473
7443	VRK1	Respiratory failure	HP:0002878
7443	VRK1	Aplasia/Hypoplasia of the cerebellum	HP:0007360
7443	VRK1	Feeding difficulties	HP:0011968
7443	VRK1	Absent speech	HP:0001344
7443	VRK1	Hypoplasia of the ventral pons	HP:0006850
7443	VRK1	Hyperreflexia	HP:0001347
7443	VRK1	Cerebral cortical atrophy	HP:0002120
7443	VRK1	Fasciculations	HP:0002380
7443	VRK1	Hypoplasia of the pons	HP:0012110
7443	VRK1	Neuronal loss in basal ganglia	HP:0200147
7443	VRK1	Basal ganglia gliosis	HP:0006999
7443	VRK1	Flexion contracture	HP:0001371
7443	VRK1	Progressive	HP:0003676
7443	VRK1	Degeneration of anterior horn cells	HP:0002398
7443	VRK1	Abnormality of the foot	HP:0001760
7443	VRK1	Limitation of joint mobility	HP:0001376
7443	VRK1	Intellectual disability	HP:0001249
7443	VRK1	Seizures	HP:0001250
7443	VRK1	Ataxia	HP:0001251
7443	VRK1	Muscular hypotonia	HP:0001252
7443	VRK1	Failure to thrive	HP:0001508
7443	VRK1	Spinal muscular atrophy	HP:0007269
7443	VRK1	Strabismus	HP:0000486
7443	VRK1	Growth delay	HP:0001510
7443	VRK1	Muscular hypotonia of the trunk	HP:0008936
7443	VRK1	Spasticity	HP:0001257
7443	VRK1	Hearing impairment	HP:0000365
7443	VRK1	Global developmental delay	HP:0001263
7443	VRK1	Congenital contracture	HP:0002803
7443	VRK1	EMG: neuropathic changes	HP:0003445
7443	VRK1	Poor head control	HP:0002421
7443	VRK1	Cerebellar atrophy	HP:0001272
7443	VRK1	Congenital onset	HP:0003577
7443	VRK1	Visual impairment	HP:0000505
7443	VRK1	Hypertonia	HP:0001276
7443	VRK1	Microcephaly	HP:0000252
7443	VRK1	Progressive microcephaly	HP:0000253
7443	VRK1	Nystagmus	HP:0000639
100128927	ZBTB42	Macrocephaly	HP:0000256
100128927	ZBTB42	Decreased fetal movement	HP:0001558
7681	MKRN3	Accelerated skeletal maturation	HP:0005616
7681	MKRN3	Autosomal dominant inheritance	HP:0000006
7681	MKRN3	Premature thelarche	HP:0010314
80208	SPG11	Gaze-evoked nystagmus	HP:0000640
80208	SPG11	EMG abnormality	HP:0003457
80208	SPG11	Skeletal muscle atrophy	HP:0003202
80208	SPG11	Drooling	HP:0002307
80208	SPG11	Spastic tetraparesis	HP:0001285
80208	SPG11	Incoordination	HP:0002311
80208	SPG11	Autosomal recessive inheritance	HP:0000007
80208	SPG11	Gait disturbance	HP:0001288
80208	SPG11	Motor polyneuropathy	HP:0007178
80208	SPG11	Degeneration of the lateral corticospinal tracts	HP:0002314
80208	SPG11	Urinary urgency	HP:0000012
80208	SPG11	Lower limb spasticity	HP:0002061
80208	SPG11	Spastic gait	HP:0002064
80208	SPG11	Pseudobulbar behavioral symptoms	HP:0002193
80208	SPG11	Urinary incontinence	HP:0000020
80208	SPG11	Urinary bladder sphincter dysfunction	HP:0002839
80208	SPG11	Pseudobulbar signs	HP:0002200
80208	SPG11	Distal peripheral sensory neuropathy	HP:0007067
80208	SPG11	Distal muscle weakness	HP:0002460
80208	SPG11	Babinski sign	HP:0003487
80208	SPG11	Hypoplasia of the corpus callosum	HP:0002079
80208	SPG11	Spastic dysarthria	HP:0002464
80208	SPG11	Retinal degeneration	HP:0000546
80208	SPG11	Reduced tendon reflexes	HP:0001315
80208	SPG11	Juvenile onset	HP:0003621
80208	SPG11	Hand muscle atrophy	HP:0009130
80208	SPG11	Lower limb muscle weakness	HP:0007340
80208	SPG11	Specific learning disability	HP:0001328
80208	SPG11	Bulbar signs	HP:0002483
80208	SPG11	Decreased number of peripheral myelinated nerve fibers	HP:0003380
80208	SPG11	Dystonia	HP:0001332
80208	SPG11	Difficulty in tongue movements	HP:0000183
80208	SPG11	Ankle clonus	HP:0011448
80208	SPG11	Knee clonus	HP:0011449
80208	SPG11	Amyotrophic lateral sclerosis	HP:0007354
80208	SPG11	Spasticity of facial muscles	HP:0002491
80208	SPG11	Respiratory insufficiency due to muscle weakness	HP:0002747
80208	SPG11	Abnormal lower motor neuron morphology	HP:0002366
80208	SPG11	Thenar muscle atrophy	HP:0003393
80208	SPG11	Hyperreflexia	HP:0001347
80208	SPG11	Spasticity of pharyngeal muscles	HP:0002501
80208	SPG11	Ventriculomegaly	HP:0002119
80208	SPG11	Childhood onset	HP:0011463
80208	SPG11	Cerebral cortical atrophy	HP:0002120
80208	SPG11	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
80208	SPG11	Upper limb spasticity	HP:0006986
80208	SPG11	Fasciculations	HP:0002380
80208	SPG11	Abnormal upper motor neuron morphology	HP:0002127
80208	SPG11	Abnormality of the urinary system	HP:0000079
80208	SPG11	Abnormality of the periventricular white matter	HP:0002518
80208	SPG11	Abnormal pyramidal signs	HP:0007256
80208	SPG11	Progressive	HP:0003676
80208	SPG11	Slow progression	HP:0003677
80208	SPG11	Dysphagia	HP:0002015
80208	SPG11	Macular degeneration	HP:0000608
80208	SPG11	Intellectual disability	HP:0001249
80208	SPG11	Pes cavus	HP:0001761
80208	SPG11	Seizures	HP:0001250
80208	SPG11	Tip-toe gait	HP:0030051
80208	SPG11	Ataxia	HP:0001251
80208	SPG11	Obesity	HP:0001513
80208	SPG11	Spasticity	HP:0001257
80208	SPG11	Spastic paraplegia	HP:0001258
80208	SPG11	Dysarthria	HP:0001260
80208	SPG11	Distal amyotrophy	HP:0003693
80208	SPG11	Mental deterioration	HP:0001268
80208	SPG11	EMG: chronic denervation signs	HP:0003444
80208	SPG11	Impaired vibration sensation in the lower limbs	HP:0002166
80208	SPG11	Neurological speech impairment	HP:0002167
80208	SPG11	Visual impairment	HP:0000505
80208	SPG11	Anarthria	HP:0002425
80208	SPG11	Agenesis of corpus callosum	HP:0001274
80208	SPG11	Sensory neuropathy	HP:0000763
80208	SPG11	Hypertonia	HP:0001276
80208	SPG11	Adult onset	HP:0003581
102	ADAM10	Autosomal dominant inheritance	HP:0000006
4920	ROR2	Macrocephaly	HP:0000256
4920	ROR2	Pectus carinatum	HP:0000768
4920	ROR2	Joint contracture of the hand	HP:0009473
4920	ROR2	Umbilical hernia	HP:0001537
4920	ROR2	Multicystic kidney dysplasia	HP:0000003
4920	ROR2	Wide anterior fontanel	HP:0000260
4920	ROR2	Abnormality of the ribs	HP:0000772
4920	ROR2	Anonychia	HP:0001798
4920	ROR2	Autosomal dominant inheritance	HP:0000006
4920	ROR2	Autosomal recessive inheritance	HP:0000007
4920	ROR2	Proptosis	HP:0000520
4920	ROR2	Delayed cranial suture closure	HP:0000270
4920	ROR2	Long eyelashes	HP:0000527
4920	ROR2	Malar flattening	HP:0000272
4920	ROR2	Thoracic hemivertebrae	HP:0008467
4920	ROR2	Retrognathia	HP:0000278
4920	ROR2	Inguinal hernia	HP:0000023
4920	ROR2	Hypoplasia of midface	HP:0011800
4920	ROR2	Aplasia/Hypoplasia involving the metacarpal bones	HP:0005914
4920	ROR2	Cryptorchidism	HP:0000028
4920	ROR2	Nevus flammeus	HP:0001052
4920	ROR2	Epicanthus	HP:0000286
4920	ROR2	Hypoplasia of penis	HP:0008736
4920	ROR2	Short toe	HP:0001831
4920	ROR2	Broad thumb	HP:0011304
4920	ROR2	Symphalangism affecting the phalanges of the hand	HP:0009773
4920	ROR2	Broad toe	HP:0001837
4920	ROR2	Ectopic anus	HP:0004397
4920	ROR2	Preaxial foot polydactyly	HP:0001841
4920	ROR2	Absent uvula	HP:0010292
4920	ROR2	Tented upper lip vermilion	HP:0010804
4920	ROR2	Micropenis	HP:0000054
4920	ROR2	Abnormality of female external genitalia	HP:0000055
4920	ROR2	Ankyloglossia	HP:0010296
4920	ROR2	Bifid tongue	HP:0010297
4920	ROR2	Cutaneous finger syndactyly	HP:0010554
4920	ROR2	Hypoplastic labia majora	HP:0000059
4920	ROR2	Clitoral hypoplasia	HP:0000060
4920	ROR2	Hypertelorism	HP:0000316
4920	ROR2	Sandal gap	HP:0001852
4920	ROR2	Alopecia	HP:0001596
4920	ROR2	Increased number of teeth	HP:0011069
4920	ROR2	Bifid distal phalanx of toe	HP:0001853
4920	ROR2	Short philtrum	HP:0000322
4920	ROR2	Upslanted palpebral fissure	HP:0000582
4920	ROR2	Renal duplication	HP:0000075
4920	ROR2	Reduced number of teeth	HP:0009804
4920	ROR2	Flat face	HP:0012368
4920	ROR2	Blue sclerae	HP:0000592
4920	ROR2	Abnormality of dental morphology	HP:0006482
4920	ROR2	Long philtrum	HP:0000343
4920	ROR2	Scoliosis	HP:0002650
4920	ROR2	Micrognathia	HP:0000347
4920	ROR2	Ventricular septal defect	HP:0001629
4920	ROR2	Vertebral segmentation defect	HP:0003422
4920	ROR2	Atria septal defect	HP:0001631
4920	ROR2	Camptodactyly	HP:0012385
4920	ROR2	Tetralogy of Fallot	HP:0001636
4920	ROR2	Posteriorly rotated ears	HP:0000358
4920	ROR2	Abnormality of the pulmonary valve	HP:0001641
4920	ROR2	Aplasia/Hypoplasia of the distal phalanges of the hand	HP:0009835
4920	ROR2	Hearing impairment	HP:0000365
4920	ROR2	Low-set, posteriorly rotated ears	HP:0000368
4920	ROR2	Clinodactyly of the 5th finger	HP:0004209
4920	ROR2	Low-set ears	HP:0000369
4920	ROR2	Nail dysplasia	HP:0002164
4920	ROR2	Small hand	HP:0200055
4920	ROR2	Hemivertebrae	HP:0002937
4920	ROR2	Short middle phalanx of the 5th finger	HP:0004220
4920	ROR2	Short nose	HP:0003196
4920	ROR2	Long palpebral fissure	HP:0000637
4920	ROR2	Hydronephrosis	HP:0000126
4920	ROR2	Thoracolumbar scoliosis	HP:0002944
4920	ROR2	Abnormality of thumb phalanx	HP:0009602
4920	ROR2	Vertebral fusion	HP:0002948
4920	ROR2	Brachydactyly syndrome	HP:0001156
4920	ROR2	Clinodactyly	HP:0030084
4920	ROR2	Otitis media	HP:0000388
4920	ROR2	Rib fusion	HP:0000902
4920	ROR2	Syndactyly	HP:0001159
4920	ROR2	Abnormality of the metacarpal bones	HP:0001163
4920	ROR2	Camptodactyly of finger	HP:0100490
4920	ROR2	Abnormality of the aorta	HP:0001679
4920	ROR2	Split hand	HP:0001171
4920	ROR2	Missing ribs	HP:0000921
4920	ROR2	Short distal phalanx of finger	HP:0009882
4920	ROR2	Downturned corners of mouth	HP:0002714
4920	ROR2	Wide mouth	HP:0000154
4920	ROR2	Duplication of the distal phalanx of hand	HP:0009883
4920	ROR2	Recurrent respiratory infections	HP:0002205
4920	ROR2	Macroglossia	HP:0000158
4920	ROR2	Depressed nasal bridge	HP:0005280
4920	ROR2	Abnormality of the tricuspid valve	HP:0001702
4920	ROR2	Dental crowding	HP:0000678
4920	ROR2	Micromelia	HP:0002983
4920	ROR2	Right ventricular outlet obstruction	HP:0001705
4920	ROR2	Abnormality of the palate	HP:0000174
4920	ROR2	Wide nasal bridge	HP:0000431
4920	ROR2	Dental malocclusion	HP:0000689
4920	ROR2	Short palm	HP:0004279
4920	ROR2	Synostosis of carpal bones	HP:0005048
4920	ROR2	Delayed eruption of permanent teeth	HP:0000696
4920	ROR2	Single transverse palmar crease	HP:0000954
4920	ROR2	Short middle phalanx of finger	HP:0005819
4920	ROR2	Cognitive impairment	HP:0100543
4920	ROR2	Delayed skeletal maturation	HP:0002750
4920	ROR2	Sacral dimple	HP:0000960
4920	ROR2	Type B brachydactyly	HP:0005831
4920	ROR2	Abnormality of the hip bone	HP:0003272
4920	ROR2	Aplasia/Hypoplasia of the distal phalanges of the toes	HP:0010185
4920	ROR2	Oral cleft	HP:0000202
4920	ROR2	Anteverted nares	HP:0000463
4920	ROR2	Abnormality of the fingernails	HP:0001231
4920	ROR2	Triangular mouth	HP:0000207
4920	ROR2	Short long bone	HP:0003026
4920	ROR2	Mesomelia	HP:0003027
4920	ROR2	Gingival overgrowth	HP:0000212
4920	ROR2	Finger syndactyly	HP:0006101
4920	ROR2	Short neck	HP:0000470
4920	ROR2	Frontal bossing	HP:0002007
4920	ROR2	Exaggerated cupid's bow	HP:0002263
4920	ROR2	Thin upper lip vermilion	HP:0000219
4920	ROR2	Abnormality of the foot	HP:0001760
4920	ROR2	Intellectual disability	HP:0001249
4920	ROR2	Short stature	HP:0004322
4920	ROR2	Elbow dislocation	HP:0003042
4920	ROR2	Strabismus	HP:0000486
4920	ROR2	Toe syndactyly	HP:0001770
4920	ROR2	Hypoplastic sacrum	HP:0004590
4920	ROR2	Downslanted palpebral fissures	HP:0000494
4920	ROR2	Global developmental delay	HP:0001263
4920	ROR2	Abnormality of the eyelashes	HP:0000499
4920	ROR2	Kyphosis	HP:0002808
4920	ROR2	Radial deviation of finger	HP:0009466
4920	ROR2	Ptosis	HP:0000508
4920	ROR2	Pectus excavatum	HP:0000767
4091	SMAD6	Coarctation of aorta	HP:0001680
4091	SMAD6	Aortic valve stenosis	HP:0001650
4091	SMAD6	Calcification of the aorta	HP:0004963
4091	SMAD6	Autosomal dominant inheritance	HP:0000006
4091	SMAD6	Bicuspid aortic valve	HP:0001647
79719	AAGAB	Neoplasm of the colon	HP:0100273
79719	AAGAB	Late onset	HP:0003584
79719	AAGAB	Heterogeneous	HP:0001425
79719	AAGAB	Hyperkeratosis	HP:0000962
79719	AAGAB	Palmoplantar keratoderma	HP:0000982
79719	AAGAB	Autosomal dominant inheritance	HP:0000006
79719	AAGAB	Abnormality of the skin	HP:0000951
79719	AAGAB	Lymphoma	HP:0002665
79719	AAGAB	Neoplasm of the breast	HP:0100013
79719	AAGAB	Abnormality of the nail	HP:0001597
79719	AAGAB	Neoplasm of the pancreas	HP:0002894
79719	AAGAB	Renal neoplasm	HP:0009726
5371	PML	Acute promyelocytic leukemia	HP:0004836
5371	PML	Somatic mutation	HP:0001428
5371	PML	Abnormality of cells of the granulocytic lineage	HP:0012135
10518	CIB2	Aplasia/Hypoplasia of the cerebellum	HP:0007360
10518	CIB2	Abnormal electroretinogram	HP:0000512
10518	CIB2	Progressive hearing impairment	HP:0001730
10518	CIB2	Autosomal dominant inheritance	HP:0000006
10518	CIB2	Cataract	HP:0000518
10518	CIB2	Autosomal recessive inheritance	HP:0000007
10518	CIB2	Childhood onset	HP:0011463
10518	CIB2	Incoordination	HP:0002311
10518	CIB2	Cerebral cortical atrophy	HP:0002120
10518	CIB2	Infantile onset	HP:0003593
10518	CIB2	Congenital sensorineural hearing impairment	HP:0008527
10518	CIB2	Prelingual sensorineural hearing impairment	HP:0000399
10518	CIB2	Absence of acoustic reflex	HP:0008529
10518	CIB2	Vertigo	HP:0002321
10518	CIB2	Heterogeneous	HP:0001425
10518	CIB2	Profound sensorineural hearing impairment	HP:0011476
10518	CIB2	Nyctalopia	HP:0000662
10518	CIB2	Sensorineural hearing impairment	HP:0000407
10518	CIB2	Vestibular dysfunction	HP:0001751
10518	CIB2	Abnormality of retinal pigmentation	HP:0007703
10518	CIB2	Progressive sensorineural hearing impairment	HP:0000408
10518	CIB2	Congenital stationary night blindness	HP:0007642
10518	CIB2	Vestibular hypofunction	HP:0001756
10518	CIB2	Hypermetropia	HP:0000540
10518	CIB2	Abnormality of the eye	HP:0000478
10518	CIB2	Nonprogressive	HP:0003680
10518	CIB2	Hallucinations	HP:0000738
10518	CIB2	Visual field defect	HP:0001123
10518	CIB2	Hypoplasia of the nasal bone	HP:0004646
10518	CIB2	Undetectable electroretinogram	HP:0000550
10518	CIB2	Digenic inheritance	HP:0010984
10518	CIB2	Abnormality of dental enamel	HP:0000682
10518	CIB2	Profound hearing impairment	HP:0012715
10518	CIB2	Bilateral sensorineural hearing impairment	HP:0008619
10518	CIB2	Absent vestibular function	HP:0008555
10518	CIB2	Hearing impairment	HP:0000365
10518	CIB2	Delayed speech and language development	HP:0000750
10518	CIB2	Absent brainstem auditory responses	HP:0004463
10518	CIB2	Severe sensorineural hearing impairment	HP:0008625
10518	CIB2	Motor delay	HP:0001270
10518	CIB2	Vestibular areflexia	HP:0008568
10518	CIB2	Incomplete partition of the cochlea type II	HP:0000376
10518	CIB2	Congenital onset	HP:0003577
10518	CIB2	Visual impairment	HP:0000505
10518	CIB2	Enlarged vestibular aqueduct	HP:0011387
10518	CIB2	Visual loss	HP:0000572
10518	CIB2	Rod-cone dystrophy	HP:0000510
10518	CIB2	Cognitive impairment	HP:0100543
55180	LINS1	Sparse hair	HP:0008070
55180	LINS1	Autosomal recessive inheritance	HP:0000007
55180	LINS1	Infantile onset	HP:0003593
55180	LINS1	Dolichocephaly	HP:0000268
55180	LINS1	Malar flattening	HP:0000272
55180	LINS1	Macrotia	HP:0000400
55180	LINS1	Hyperactive deep tendon reflexes	HP:0006801
55180	LINS1	Narrow face	HP:0000275
55180	LINS1	Long face	HP:0000276
55180	LINS1	Sensorineural hearing impairment	HP:0000407
55180	LINS1	Synophrys	HP:0000664
55180	LINS1	Coarse facial features	HP:0000280
55180	LINS1	Hypoplasia of midface	HP:0011800
55180	LINS1	Downturned corners of mouth	HP:0002714
55180	LINS1	Abnormality of the cerebellar vermis	HP:0002334
55180	LINS1	Babinski sign	HP:0003487
55180	LINS1	Hypoplasia of the corpus callosum	HP:0002079
55180	LINS1	Depressed nasal bridge	HP:0005280
55180	LINS1	Poor speech	HP:0002465
55180	LINS1	Elevated serum creatine phosphokinase	HP:0003236
55180	LINS1	Truncal obesity	HP:0001956
55180	LINS1	Juvenile onset	HP:0003621
55180	LINS1	Intellectual disability, moderate	HP:0002342
55180	LINS1	Prominent nasal bridge	HP:0000426
55180	LINS1	Long eyebrows	HP:0004523
55180	LINS1	Underdeveloped nasal alae	HP:0000430
55180	LINS1	Wide nasal bridge	HP:0000431
55180	LINS1	Mandibular prognathia	HP:0000303
55180	LINS1	Pointed chin	HP:0000307
55180	LINS1	Dystonia	HP:0001332
55180	LINS1	Sleep disturbance	HP:0002360
55180	LINS1	Myoclonus	HP:0001336
55180	LINS1	Tremor	HP:0001337
55180	LINS1	Hypertelorism	HP:0000316
55180	LINS1	Thick eyebrow	HP:0000574
55180	LINS1	Smooth philtrum	HP:0000319
55180	LINS1	Prominent nose	HP:0000448
55180	LINS1	Postnatal growth retardation	HP:0008897
55180	LINS1	Short philtrum	HP:0000322
55180	LINS1	Hyperreflexia	HP:0001347
55180	LINS1	Eczema	HP:0000964
55180	LINS1	Blepharophimosis	HP:0000581
55180	LINS1	Agitation	HP:0000713
55180	LINS1	Short chin	HP:0000331
55180	LINS1	Cleft upper lip	HP:0000204
55180	LINS1	Aggressive behavior	HP:0000718
55180	LINS1	Focal seizures with impairment of consciousness or awareness	HP:0002384
55180	LINS1	Prominent supraorbital ridges	HP:0000336
55180	LINS1	Hypomimic face	HP:0000338
55180	LINS1	Short neck	HP:0000470
55180	LINS1	Long philtrum	HP:0000343
55180	LINS1	Hypotelorism	HP:0000601
55180	LINS1	Thin upper lip vermilion	HP:0000219
55180	LINS1	Flat occiput	HP:0005469
55180	LINS1	Broad eyebrow	HP:0011229
55180	LINS1	Short attention span	HP:0000736
55180	LINS1	Intellectual disability	HP:0001249
55180	LINS1	Pes cavus	HP:0001761
55180	LINS1	Short stature	HP:0004322
55180	LINS1	Seizures	HP:0001250
55180	LINS1	Pes planus	HP:0001763
55180	LINS1	Muscular hypotonia	HP:0001252
55180	LINS1	Growth delay	HP:0001510
55180	LINS1	Strabismus	HP:0000486
55180	LINS1	Self-mutilation	HP:0000742
55180	LINS1	Intellectual disability, progressive	HP:0006887
55180	LINS1	Intellectual disability, mild	HP:0001256
55180	LINS1	Muscular hypotonia of the trunk	HP:0008936
55180	LINS1	Spasticity	HP:0001257
55180	LINS1	Thin vermilion border	HP:0000233
55180	LINS1	Obesity	HP:0001513
55180	LINS1	Deeply set eye	HP:0000490
55180	LINS1	Achilles tendon contracture	HP:0001771
55180	LINS1	Dysarthria	HP:0001260
55180	LINS1	Postnatal microcephaly	HP:0005484
55180	LINS1	Delayed speech and language development	HP:0000750
55180	LINS1	Small for gestational age	HP:0001518
55180	LINS1	Downslanted palpebral fissures	HP:0000494
55180	LINS1	Global developmental delay	HP:0001263
55180	LINS1	Hyperactivity	HP:0000752
55180	LINS1	Intellectual disability, severe	HP:0010864
55180	LINS1	Incomprehensible speech	HP:0002546
55180	LINS1	Telecanthus	HP:0000506
55180	LINS1	Microcephaly	HP:0000252
55180	LINS1	Nystagmus	HP:0000639
4261	CIITA	Chronic lymphocytic meningitis	HP:0007041
4261	CIITA	Protracted diarrhea	HP:0004385
4261	CIITA	Viral hepatitis	HP:0006562
4261	CIITA	Panhypogammaglobulinemia	HP:0003139
4261	CIITA	Failure to thrive	HP:0001508
4261	CIITA	Recurrent upper respiratory tract infections	HP:0002788
4261	CIITA	Autosomal dominant inheritance	HP:0000006
4261	CIITA	Autosomal recessive inheritance	HP:0000007
4261	CIITA	Chronic mucocutaneous candidiasis	HP:0002728
4261	CIITA	Malabsorption	HP:0002024
4261	CIITA	Recurrent urinary tract infections	HP:0000010
4261	CIITA	Recurrent protozoan infections	HP:0005386
4261	CIITA	Recurrent viral infections	HP:0004429
4261	CIITA	Encephalitis	HP:0002383
4261	CIITA	Agammaglobulinemia	HP:0004432
4261	CIITA	Villous atrophy	HP:0011473
4261	CIITA	Neutropenia	HP:0001875
4261	CIITA	Cutaneous anergy	HP:0002965
4261	CIITA	Colitis	HP:0002583
4261	CIITA	Biliary tract abnormality	HP:0001080
4261	CIITA	Recurrent fungal infections	HP:0002841
4261	CIITA	Recurrent bacterial infections	HP:0002718
4261	CIITA	Recurrent lower respiratory tract infections	HP:0002783
54820	NDE1	Athetosis	HP:0002305
54820	NDE1	Skeletal muscle atrophy	HP:0003202
54820	NDE1	Hyperreflexia	HP:0001347
54820	NDE1	Autosomal recessive inheritance	HP:0000007
54820	NDE1	Ventriculomegaly	HP:0002119
54820	NDE1	Proptosis	HP:0000520
54820	NDE1	Generalized myoclonic seizures	HP:0002123
54820	NDE1	Intellectual disability, profound	HP:0002187
54820	NDE1	Multiple joint contractures	HP:0002828
54820	NDE1	Spastic tetraplegia	HP:0002510
54820	NDE1	Macrotia	HP:0000400
54820	NDE1	Hydranencephaly	HP:0002324
54820	NDE1	Sloping forehead	HP:0000340
54820	NDE1	Pachygyria	HP:0001302
54820	NDE1	Cortical gyral simplification	HP:0009879
54820	NDE1	Talipes equinovarus	HP:0001762
54820	NDE1	Short stature	HP:0004322
54820	NDE1	Seizures	HP:0001250
54820	NDE1	Self-mutilation	HP:0000742
54820	NDE1	Intellectual disability, progressive	HP:0006887
54820	NDE1	Cerebellar hypoplasia	HP:0001321
54820	NDE1	Prominent nasal bridge	HP:0000426
54820	NDE1	Global developmental delay	HP:0001263
54820	NDE1	Intellectual disability, severe	HP:0010864
54820	NDE1	Congenital onset	HP:0003577
54820	NDE1	Agenesis of corpus callosum	HP:0001274
54820	NDE1	Lissencephaly	HP:0001339
54820	NDE1	Microcephaly	HP:0000252
54820	NDE1	Hypertonia	HP:0001276
54820	NDE1	Hypoplasia of the brainstem	HP:0002365
80270	HSD3B7	Hepatomegaly	HP:0002240
80270	HSD3B7	Failure to thrive	HP:0001508
80270	HSD3B7	Peripheral neuropathy	HP:0009830
80270	HSD3B7	Neonatal onset	HP:0003623
80270	HSD3B7	Autosomal recessive inheritance	HP:0000007
80270	HSD3B7	Abnormality of coagulation	HP:0001928
80270	HSD3B7	Steatorrhea	HP:0002570
80270	HSD3B7	Hypocholesterolemia	HP:0003146
80270	HSD3B7	Splenomegaly	HP:0001744
80270	HSD3B7	Acholic stools	HP:0011985
80270	HSD3B7	Cirrhosis	HP:0001394
80270	HSD3B7	Nyctalopia	HP:0000662
80270	HSD3B7	Hepatic failure	HP:0001399
80270	HSD3B7	Giant cell hepatitis	HP:0200084
80270	HSD3B7	Abnormality of the coagulation cascade	HP:0003256
80270	HSD3B7	Hyperbilirubinemia	HP:0002904
80270	HSD3B7	Jaundice	HP:0000952
80270	HSD3B7	Pruritus	HP:0000989
80270	HSD3B7	Reduced bone mineral density	HP:0004349
80270	HSD3B7	Intrahepatic cholestasis	HP:0001406
80270	HSD3B7	Elevated hepatic transaminases	HP:0002910
80270	HSD3B7	Diarrhea	HP:0002014
80270	HSD3B7	Gastrointestinal hemorrhage	HP:0002239
10300	KATNB1	Seizures	HP:0001250
10300	KATNB1	Hyperreflexia	HP:0001347
10300	KATNB1	Ventriculomegaly	HP:0002119
10300	KATNB1	Spasticity	HP:0001257
10300	KATNB1	Limb hypertonia	HP:0002509
10300	KATNB1	Polymicrogyria	HP:0002126
10300	KATNB1	Global developmental delay	HP:0001263
10300	KATNB1	Sloping forehead	HP:0000340
10300	KATNB1	Motor delay	HP:0001270
10300	KATNB1	Pachygyria	HP:0001302
10300	KATNB1	Cortical gyral simplification	HP:0009879
10300	KATNB1	Partial agenesis of the corpus callosum	HP:0001338
10300	KATNB1	Lissencephaly	HP:0001339
10300	KATNB1	Microcephaly	HP:0000252
10300	KATNB1	Cognitive impairment	HP:0100543
10300	KATNB1	Hypoplasia of the corpus callosum	HP:0002079
53630	BCO1	Bitot spots of the conjunctiva	HP:0007462
53630	BCO1	Nyctalopia	HP:0000662
53630	BCO1	Autosomal dominant inheritance	HP:0000006
53630	BCO1	Autosomal recessive inheritance	HP:0000007
53630	BCO1	Abnormality of the skin	HP:0000951
53630	BCO1	Vitamin A deficiency	HP:0004905
53630	BCO1	Follicular hyperkeratosis	HP:0007502
23417	MLYCD	Seizures	HP:0001250
23417	MLYCD	Chronic constipation	HP:0012450
23417	MLYCD	Short stature	HP:0004322
23417	MLYCD	Constipation	HP:0002019
23417	MLYCD	Muscular hypotonia	HP:0001252
23417	MLYCD	Autosomal recessive inheritance	HP:0000007
23417	MLYCD	Hypertrophic cardiomyopathy	HP:0001639
23417	MLYCD	Abdominal pain	HP:0002027
23417	MLYCD	Global developmental delay	HP:0001263
23417	MLYCD	Metabolic acidosis	HP:0001942
23417	MLYCD	Pachygyria	HP:0001302
23417	MLYCD	Hypoglycemia	HP:0001943
23417	MLYCD	Lactic acidosis	HP:0003128
23417	MLYCD	Ketosis	HP:0001946
23417	MLYCD	Abnormality of the cardiovascular system	HP:0001626
23417	MLYCD	Vomiting	HP:0002013
23417	MLYCD	Cognitive impairment	HP:0100543
23417	MLYCD	Diarrhea	HP:0002014
3394	IRF8	Abnormality of immune system physiology	HP:0010978
3394	IRF8	Abnormality of temperature regulation	HP:0004370
3394	IRF8	Failure to thrive	HP:0001508
3394	IRF8	Autosomal recessive inheritance	HP:0000007
3394	IRF8	Infantile onset	HP:0003593
3394	IRF8	Lymphadenopathy	HP:0002716
6687	SPG7	Pes cavus	HP:0001761
6687	SPG7	Hyperreflexia	HP:0001347
6687	SPG7	Autosomal dominant inheritance	HP:0000006
6687	SPG7	Autosomal recessive inheritance	HP:0000007
6687	SPG7	Optic atrophy	HP:0000648
6687	SPG7	Cerebral cortical atrophy	HP:0002120
6687	SPG7	Spastic paraplegia	HP:0001258
6687	SPG7	Degeneration of the lateral corticospinal tracts	HP:0002314
6687	SPG7	Dysarthria	HP:0001260
6687	SPG7	Lower limb muscle weakness	HP:0007340
6687	SPG7	Urinary urgency	HP:0000012
6687	SPG7	Lower limb spasticity	HP:0002061
6687	SPG7	Spastic gait	HP:0002064
6687	SPG7	Gait ataxia	HP:0002066
6687	SPG7	Memory impairment	HP:0002354
6687	SPG7	Urinary incontinence	HP:0000020
6687	SPG7	Impaired vibration sensation in the lower limbs	HP:0002166
6687	SPG7	Urinary bladder sphincter dysfunction	HP:0002839
6687	SPG7	Cerebellar atrophy	HP:0001272
6687	SPG7	Scoliosis	HP:0002650
6687	SPG7	Adult onset	HP:0003581
6687	SPG7	Babinski sign	HP:0003487
6687	SPG7	Nystagmus	HP:0000639
6687	SPG7	Dysphagia	HP:0002015
5119	CHMP1A	Absent speech	HP:0001344
5119	CHMP1A	Hyperreflexia	HP:0001347
5119	CHMP1A	Autosomal recessive inheritance	HP:0000007
5119	CHMP1A	Talipes valgus	HP:0004684
5119	CHMP1A	Chorea	HP:0002072
5119	CHMP1A	Hypermetropia	HP:0000540
5119	CHMP1A	Hypoplasia of the corpus callosum	HP:0002079
5119	CHMP1A	Dysphagia	HP:0002015
5119	CHMP1A	Cortical visual impairment	HP:0100704
5119	CHMP1A	Poor speech	HP:0002465
5119	CHMP1A	Pes cavus	HP:0001761
5119	CHMP1A	Myopia	HP:0000545
5119	CHMP1A	Intellectual disability	HP:0001249
5119	CHMP1A	Talipes equinovarus	HP:0001762
5119	CHMP1A	Astigmatism	HP:0000483
5119	CHMP1A	Gastroesophageal reflux	HP:0002020
5119	CHMP1A	Hypertrichosis	HP:0000998
5119	CHMP1A	Muscular hypotonia of the trunk	HP:0008936
5119	CHMP1A	Spasticity	HP:0001257
5119	CHMP1A	Cerebellar hypoplasia	HP:0001321
5119	CHMP1A	Postnatal microcephaly	HP:0005484
5119	CHMP1A	Global developmental delay	HP:0001263
5119	CHMP1A	Arthrogryposis multiplex congenita	HP:0002804
5119	CHMP1A	Esotropia	HP:0000565
5119	CHMP1A	Congenital onset	HP:0003577
5119	CHMP1A	Hypoplasia of the brainstem	HP:0002365
5119	CHMP1A	Nystagmus	HP:0000639
9526	MPDU1	Absent speech	HP:0001344
9526	MPDU1	Feeding difficulties	HP:0011968
9526	MPDU1	Hyperkeratosis	HP:0000962
9526	MPDU1	Seizures	HP:0001250
9526	MPDU1	Ataxia	HP:0001251
9526	MPDU1	Failure to thrive	HP:0001508
9526	MPDU1	Muscular hypotonia	HP:0001252
9526	MPDU1	Strabismus	HP:0000486
9526	MPDU1	Optic atrophy	HP:0000648
9526	MPDU1	Cerebral atrophy	HP:0002059
9526	MPDU1	Global developmental delay	HP:0001263
9526	MPDU1	Flexion contracture	HP:0001371
9526	MPDU1	Erythroderma	HP:0001019
9526	MPDU1	Hypertonia	HP:0001276
9526	MPDU1	Microcephaly	HP:0000252
9526	MPDU1	Scaling skin	HP:0040189
9526	MPDU1	Abnormality of the eye	HP:0000478
9526	MPDU1	Cognitive impairment	HP:0100543
9526	MPDU1	Dry skin	HP:0000958
9526	MPDU1	Nystagmus	HP:0000639
60528	ELAC2	Congestive heart failure	HP:0001635
60528	ELAC2	Muscular hypotonia	HP:0001252
60528	ELAC2	Failure to thrive	HP:0001508
60528	ELAC2	Growth delay	HP:0001510
60528	ELAC2	Autosomal dominant inheritance	HP:0000006
60528	ELAC2	Hypertrophic cardiomyopathy	HP:0001639
60528	ELAC2	Autosomal recessive inheritance	HP:0000007
60528	ELAC2	Neoplasm of the central nervous system	HP:0100006
60528	ELAC2	Neoplasm	HP:0002664
60528	ELAC2	X-linked inheritance	HP:0001417
60528	ELAC2	Hearing impairment	HP:0000365
60528	ELAC2	Global developmental delay	HP:0001263
60528	ELAC2	Lactic acidosis	HP:0003128
60528	ELAC2	Microcephaly	HP:0000252
60528	ELAC2	Prostate cancer	HP:0012125
124590	USH1G	Aplasia/Hypoplasia of the cerebellum	HP:0007360
124590	USH1G	Abnormal electroretinogram	HP:0000512
124590	USH1G	Cataract	HP:0000518
124590	USH1G	Autosomal recessive inheritance	HP:0000007
124590	USH1G	Incoordination	HP:0002311
124590	USH1G	Cerebral cortical atrophy	HP:0002120
124590	USH1G	Congenital sensorineural hearing impairment	HP:0008527
124590	USH1G	Heterogeneous	HP:0001425
124590	USH1G	Nyctalopia	HP:0000662
124590	USH1G	Vestibular dysfunction	HP:0001751
124590	USH1G	Sensorineural hearing impairment	HP:0000407
124590	USH1G	Abnormality of retinal pigmentation	HP:0007703
124590	USH1G	Hypermetropia	HP:0000540
124590	USH1G	Vestibular hypofunction	HP:0001756
124590	USH1G	Hallucinations	HP:0000738
124590	USH1G	Visual field defect	HP:0001123
124590	USH1G	Hypoplasia of the nasal bone	HP:0004646
124590	USH1G	Undetectable electroretinogram	HP:0000550
124590	USH1G	Abnormality of dental enamel	HP:0000682
124590	USH1G	Absent vestibular function	HP:0008555
124590	USH1G	Hearing impairment	HP:0000365
124590	USH1G	Motor delay	HP:0001270
124590	USH1G	Vestibular areflexia	HP:0008568
124590	USH1G	Congenital onset	HP:0003577
124590	USH1G	Visual impairment	HP:0000505
124590	USH1G	Visual loss	HP:0000572
124590	USH1G	Rod-cone dystrophy	HP:0000510
124590	USH1G	Cognitive impairment	HP:0100543
9775	EIF4A3	Cleft mandible	HP:0010752
9775	EIF4A3	Prominent nose	HP:0000448
9775	EIF4A3	Feeding difficulties	HP:0011968
9775	EIF4A3	Short metacarpal	HP:0010049
9775	EIF4A3	Bifid uvula	HP:0000193
9775	EIF4A3	Aplasia/Hypoplasia of the thumb	HP:0009601
9775	EIF4A3	Cleft lower alveolar ridge	HP:0009094
9775	EIF4A3	Autosomal recessive inheritance	HP:0000007
9775	EIF4A3	Abnormality of the voice	HP:0001608
9775	EIF4A3	Pierre-Robin sequence	HP:0000201
9775	EIF4A3	Short phalanx of finger	HP:0009803
9775	EIF4A3	Abnormality of the metacarpal bones	HP:0001163
9775	EIF4A3	Hip dislocation	HP:0002827
9775	EIF4A3	Reduced number of teeth	HP:0009804
9775	EIF4A3	Radial deviation of the hand	HP:0009486
9775	EIF4A3	Tibial deviation of toes	HP:0100499
9775	EIF4A3	Agenesis of mandibular central incisor	HP:0006355
9775	EIF4A3	Facial cleft	HP:0002006
9775	EIF4A3	Proximal placement of thumb	HP:0009623
9775	EIF4A3	High palate	HP:0000218
9775	EIF4A3	Micrognathia	HP:0000347
9775	EIF4A3	Protruding ear	HP:0000411
9775	EIF4A3	Talipes	HP:0001883
9775	EIF4A3	Hip Subluxation	HP:0030043
9775	EIF4A3	Radial club hand	HP:0004059
9775	EIF4A3	Fibular hypoplasia	HP:0003038
9775	EIF4A3	Narrow mouth	HP:0000160
9775	EIF4A3	Glossoptosis	HP:0000162
9775	EIF4A3	Short stature	HP:0004322
9775	EIF4A3	Talipes equinovarus	HP:0001762
9775	EIF4A3	Acetabular dysplasia	HP:0008807
9775	EIF4A3	Short tibia	HP:0005736
9775	EIF4A3	Hypoplasia of the radius	HP:0002984
9775	EIF4A3	Abnormality of the aryepiglottic fold	HP:0008744
9775	EIF4A3	Respiratory insufficiency	HP:0002093
9775	EIF4A3	Global developmental delay	HP:0001263
9775	EIF4A3	Cleft palate	HP:0000175
9775	EIF4A3	Abnormality of the tibia	HP:0002992
9775	EIF4A3	Low-set, posteriorly rotated ears	HP:0000368
9775	EIF4A3	Clinodactyly of the 5th finger	HP:0004209
9775	EIF4A3	Low-set ears	HP:0000369
9775	EIF4A3	Aplasia of the epiglottis	HP:0008753
9775	EIF4A3	Short thumb	HP:0009778
9775	EIF4A3	Microretrognathia	HP:0000308
9775	EIF4A3	Abnormality of the pinna	HP:0000377
5148	PDE6G	Abnormal electroretinogram	HP:0000512
5148	PDE6G	Red-green dyschromatopsia	HP:0000642
5148	PDE6G	Chorioretinal degeneration	HP:0200065
5148	PDE6G	Abnormal light- and dark-adapted electroretinogram	HP:0008323
5148	PDE6G	Peripheral retinal atrophy	HP:0200070
5148	PDE6G	Autosomal dominant inheritance	HP:0000006
5148	PDE6G	Cataract	HP:0000518
5148	PDE6G	Autosomal recessive inheritance	HP:0000007
5148	PDE6G	Undetectable light- and dark-adapted electroretinogram	HP:0007688
5148	PDE6G	Optic atrophy	HP:0000648
5148	PDE6G	X-linked inheritance	HP:0001417
5148	PDE6G	Infantile onset	HP:0003593
5148	PDE6G	Pendular nystagmus	HP:0012043
5148	PDE6G	X-linked recessive inheritance	HP:0001419
5148	PDE6G	Retinal flecks	HP:0012045
5148	PDE6G	Decreased light- and dark-adapted electroretinogram amplitude	HP:0000654
5148	PDE6G	Peripapillary chorioretinal atrophy	HP:0007950
5148	PDE6G	Progressive visual loss	HP:0000529
5148	PDE6G	Chorioretinal atrophy	HP:0000533
5148	PDE6G	Conductive hearing impairment	HP:0000405
5148	PDE6G	Nyctalopia	HP:0000662
5148	PDE6G	Adult-onset night blindness	HP:0007830
5148	PDE6G	Sensorineural hearing impairment	HP:0000407
5148	PDE6G	Abnormality of retinal pigmentation	HP:0007703
5148	PDE6G	Hypermetropia	HP:0000540
5148	PDE6G	Retinal detachment	HP:0000541
5148	PDE6G	Recurrent respiratory infections	HP:0002205
5148	PDE6G	Optic disc pallor	HP:0000543
5148	PDE6G	Situs inversus totalis	HP:0001696
5148	PDE6G	Hypoplasia of penis	HP:0008736
5148	PDE6G	Myopia	HP:0000545
5148	PDE6G	Postaxial polydactyly	HP:0100259
5148	PDE6G	Retinal degeneration	HP:0000546
5148	PDE6G	Attenuation of retinal blood vessels	HP:0007843
5148	PDE6G	Abnormality of the testis	HP:0000035
5148	PDE6G	Cone/cone-rod dystrophy	HP:0000548
5148	PDE6G	Undetectable electroretinogram	HP:0000550
5148	PDE6G	Abnormality of color vision	HP:0000551
5148	PDE6G	Tritanomaly	HP:0000552
5148	PDE6G	Retinal pigment epithelial atrophy	HP:0007722
5148	PDE6G	Retinal dystrophy	HP:0000556
5148	PDE6G	Wide nasal bridge	HP:0000431
5148	PDE6G	Keratoconus	HP:0000563
5148	PDE6G	Progressive visual field defects	HP:0007987
5148	PDE6G	Bone spicule pigmentation of the retina	HP:0007737
5148	PDE6G	Peripheral visual field loss	HP:0007994
5148	PDE6G	Visual loss	HP:0000572
5148	PDE6G	Cognitive impairment	HP:0100543
5148	PDE6G	Scotoma	HP:0000575
5148	PDE6G	Hyperreflexia	HP:0001347
5148	PDE6G	Congenital blindness	HP:0007875
5148	PDE6G	Pigmentary retinopathy	HP:0000580
5148	PDE6G	Hyperinsulinemia	HP:0000842
5148	PDE6G	Fundus atrophy	HP:0001099
5148	PDE6G	Anteverted nares	HP:0000463
5148	PDE6G	Decreased corneal thickness	HP:0100689
5148	PDE6G	Retinal atrophy	HP:0001105
5148	PDE6G	Pallor	HP:0000980
5148	PDE6G	Progressive cone degeneration	HP:0008020
5148	PDE6G	Ophthalmoparesis	HP:0000597
5148	PDE6G	Hypopigmentation of the fundus	HP:0007894
5148	PDE6G	Type II diabetes mellitus	HP:0005978
5148	PDE6G	Atypical scarring of skin	HP:0000987
5148	PDE6G	Central scotoma	HP:0000603
5148	PDE6G	Posterior polar cataract	HP:0001115
5148	PDE6G	Cystoid macular degeneration	HP:0008028
5148	PDE6G	Falls	HP:0002527
5148	PDE6G	Macular degeneration	HP:0000608
5148	PDE6G	Astigmatism	HP:0000483
5148	PDE6G	Visual field defect	HP:0001123
5148	PDE6G	Photophobia	HP:0000613
5148	PDE6G	Strabismus	HP:0000486
5148	PDE6G	Immotile cilia	HP:0012263
5148	PDE6G	Abnormality of skin pigmentation	HP:0001000
5148	PDE6G	Obesity	HP:0001513
5148	PDE6G	Macular atrophy	HP:0007401
5148	PDE6G	Blindness	HP:0000618
5148	PDE6G	Posterior subcapsular cataract	HP:0007787
5148	PDE6G	Retinal arteriolar constriction	HP:0008043
5148	PDE6G	Constriction of peripheral visual field	HP:0001133
5148	PDE6G	Abnormality of the retinal vasculature	HP:0008046
5148	PDE6G	Blurred vision	HP:0000622
5148	PDE6G	Reduced visual acuity	HP:0007663
5148	PDE6G	Macular edema	HP:0040049
5148	PDE6G	Cystoid macular edema	HP:0011505
5148	PDE6G	Glaucoma	HP:0000501
5148	PDE6G	Incomplete penetrance	HP:0003829
5148	PDE6G	Severe visual impairment	HP:0001141
5148	PDE6G	Visual impairment	HP:0000505
5148	PDE6G	Pigmentary retinal degeneration	HP:0001146
5148	PDE6G	Rod-cone dystrophy	HP:0000510
5148	PDE6G	Nystagmus	HP:0000639
4729	NDUFV2	Progressive macrocephaly	HP:0004481
4729	NDUFV2	Skeletal muscle atrophy	HP:0003202
4729	NDUFV2	Cerebral edema	HP:0002181
4729	NDUFV2	Incoordination	HP:0002311
4729	NDUFV2	Autosomal recessive inheritance	HP:0000007
4729	NDUFV2	Optic atrophy	HP:0000648
4729	NDUFV2	Infantile onset	HP:0003593
4729	NDUFV2	CNS demyelination	HP:0007305
4729	NDUFV2	X-linked dominant inheritance	HP:0001423
4729	NDUFV2	Heterogeneous	HP:0001425
4729	NDUFV2	Mitochondrial inheritance	HP:0001427
4729	NDUFV2	Sensorineural hearing impairment	HP:0000407
4729	NDUFV2	Hypoglycemia	HP:0001943
4729	NDUFV2	Babinski sign	HP:0003487
4729	NDUFV2	Optic disc pallor	HP:0000543
4729	NDUFV2	Feeding difficulties in infancy	HP:0008872
4729	NDUFV2	Muscle weakness	HP:0001324
4729	NDUFV2	Respiratory insufficiency	HP:0002093
4729	NDUFV2	Dystonia	HP:0001332
4729	NDUFV2	Acute necrotizing encephalopathy	HP:0006965
4729	NDUFV2	Abnormality of movement	HP:0100022
4729	NDUFV2	Lactic acidosis	HP:0003128
4729	NDUFV2	Apnea	HP:0002104
4729	NDUFV2	Increased CSF lactate	HP:0002490
4729	NDUFV2	Cognitive impairment	HP:0100543
4729	NDUFV2	Respiratory failure	HP:0002878
4729	NDUFV2	Hyperreflexia	HP:0001347
4729	NDUFV2	Pigmentary retinopathy	HP:0000580
4729	NDUFV2	Emotional lability	HP:0000712
4729	NDUFV2	Developmental regression	HP:0002376
4729	NDUFV2	Ophthalmoparesis	HP:0000597
4729	NDUFV2	Ophthalmoplegia	HP:0000602
4729	NDUFV2	Exercise intolerance	HP:0003546
4729	NDUFV2	Progressive	HP:0003676
4729	NDUFV2	Vomiting	HP:0002013
4729	NDUFV2	Ventricular septal defect	HP:0001629
4729	NDUFV2	Intellectual disability	HP:0001249
4729	NDUFV2	Seizures	HP:0001250
4729	NDUFV2	Ataxia	HP:0001251
4729	NDUFV2	Failure to thrive	HP:0001508
4729	NDUFV2	Muscular hypotonia	HP:0001252
4729	NDUFV2	Phenotypic variability	HP:0003812
4729	NDUFV2	Strabismus	HP:0000486
4729	NDUFV2	Hypertrichosis	HP:0000998
4729	NDUFV2	Lethargy	HP:0001254
4729	NDUFV2	Growth delay	HP:0001510
4729	NDUFV2	Increased serum lactate	HP:0002151
4729	NDUFV2	Hypertrophic cardiomyopathy	HP:0001639
4729	NDUFV2	Abnormal pattern of respiration	HP:0002793
4729	NDUFV2	Spasticity	HP:0001257
4729	NDUFV2	Blindness	HP:0000618
4729	NDUFV2	Coma	HP:0001259
4729	NDUFV2	Dysarthria	HP:0001260
4729	NDUFV2	Hearing impairment	HP:0000365
4729	NDUFV2	Global developmental delay	HP:0001263
4729	NDUFV2	Leukodystrophy	HP:0002415
4729	NDUFV2	Hyporeflexia	HP:0001265
4729	NDUFV2	Hepatic failure	HP:0001399
4729	NDUFV2	Cerebellar atrophy	HP:0001272
4729	NDUFV2	Gliosis	HP:0002171
4729	NDUFV2	Ptosis	HP:0000508
4729	NDUFV2	Hepatocellular necrosis	HP:0001404
4729	NDUFV2	Abnormal mitochondria in muscle tissue	HP:0008316
4729	NDUFV2	Nystagmus	HP:0000639
5932	RBBP8	Few cafe-au-lait spots	HP:0007429
5932	RBBP8	Cataract	HP:0000518
5932	RBBP8	Autosomal recessive inheritance	HP:0000007
5932	RBBP8	Proptosis	HP:0000520
5932	RBBP8	Cerebral atrophy	HP:0002059
5932	RBBP8	Dislocated radial head	HP:0003083
5932	RBBP8	Hip dislocation	HP:0002827
5932	RBBP8	Narrow face	HP:0000275
5932	RBBP8	Retrognathia	HP:0000278
5932	RBBP8	Pachygyria	HP:0001302
5932	RBBP8	Cryptorchidism	HP:0000028
5932	RBBP8	Hallux valgus	HP:0001822
5932	RBBP8	Optic disc pallor	HP:0000543
5932	RBBP8	Hypoplasia of proximal radius	HP:0006434
5932	RBBP8	Cerebellar vermis hypoplasia	HP:0001320
5932	RBBP8	Cerebellar hypoplasia	HP:0001321
5932	RBBP8	Hypoplasia of proximal fibula	HP:0006442
5932	RBBP8	Hypospadias	HP:0000047
5932	RBBP8	Round face	HP:0000311
5932	RBBP8	Microphthalmia	HP:0000568
5932	RBBP8	Selective tooth agenesis	HP:0001592
5932	RBBP8	Clitoromegaly	HP:0000057
5932	RBBP8	Sandal gap	HP:0001852
5932	RBBP8	Large eyes	HP:0001090
5932	RBBP8	Facial asymmetry	HP:0000324
5932	RBBP8	Blepharophimosis	HP:0000581
5932	RBBP8	Prematurely aged appearance	HP:0007495
5932	RBBP8	Single interphalangeal crease of fifth finger	HP:0006216
5932	RBBP8	Reduced number of teeth	HP:0009804
5932	RBBP8	Mild global developmental delay	HP:0011342
5932	RBBP8	Craniosynostosis	HP:0001363
5932	RBBP8	Cone-shaped epiphysis	HP:0010579
5932	RBBP8	Sloping forehead	HP:0000340
5932	RBBP8	Pancytopenia	HP:0001876
5932	RBBP8	High pitched voice	HP:0001620
5932	RBBP8	4-5 toe syndactyly	HP:0004692
5932	RBBP8	Narrow forehead	HP:0000341
5932	RBBP8	Ectopic kidney	HP:0000086
5932	RBBP8	Ivory epiphyses	HP:0010583
5932	RBBP8	Scoliosis	HP:0002650
5932	RBBP8	Micrognathia	HP:0000347
5932	RBBP8	Talipes	HP:0001883
5932	RBBP8	High forehead	HP:0000348
5932	RBBP8	Abnormal hair quantity	HP:0011362
5932	RBBP8	Large beaked nose	HP:0003683
5932	RBBP8	Joint hypermobility	HP:0001382
5932	RBBP8	11 pairs of ribs	HP:0000878
5932	RBBP8	Clinodactyly of the 5th finger	HP:0004209
5932	RBBP8	Low-set ears	HP:0000369
5932	RBBP8	Small hand	HP:0200055
5932	RBBP8	Abnormality of the pinna	HP:0000377
5932	RBBP8	Short middle phalanx of the 5th finger	HP:0004220
5932	RBBP8	Thoracic scoliosis	HP:0002943
5932	RBBP8	Spinal cord compression	HP:0002176
5932	RBBP8	Optic atrophy	HP:0000648
5932	RBBP8	Large basal ganglia	HP:0007048
5932	RBBP8	Abnormality of chromosome stability	HP:0003220
5932	RBBP8	Absent fourth finger distal interphalangeal crease	HP:0005780
5932	RBBP8	Cortical gyral simplification	HP:0009879
5932	RBBP8	Hypoplasia of dental enamel	HP:0006297
5932	RBBP8	Dental crowding	HP:0000678
5932	RBBP8	Abnormality of dental enamel	HP:0000682
5932	RBBP8	Prominent nasal bridge	HP:0000426
5932	RBBP8	Elbow flexion contracture	HP:0002987
5932	RBBP8	Microglossia	HP:0000171
5932	RBBP8	Underdeveloped nasal alae	HP:0000430
5932	RBBP8	Cleft palate	HP:0000175
5932	RBBP8	Dental malocclusion	HP:0000689
5932	RBBP8	Aplasia/Hypoplasia of the earlobes	HP:0009906
5932	RBBP8	Microdontia	HP:0000691
5932	RBBP8	Proportionate short stature	HP:0003508
5932	RBBP8	Single transverse palmar crease	HP:0000954
5932	RBBP8	Congenital microcephaly	HP:0011451
5932	RBBP8	Convex nasal ridge	HP:0000444
5932	RBBP8	Cognitive impairment	HP:0100543
5932	RBBP8	Delayed skeletal maturation	HP:0002750
5932	RBBP8	Kyphoscoliosis	HP:0002751
5932	RBBP8	Prominent nose	HP:0000448
5932	RBBP8	Postnatal growth retardation	HP:0008897
5932	RBBP8	Heart murmur	HP:0030148
5932	RBBP8	Abnormality of the hip bone	HP:0003272
5932	RBBP8	Aggressive behavior	HP:0000718
5932	RBBP8	Abnormal facial shape	HP:0001999
5932	RBBP8	Steep acetabular roof	HP:0010455
5932	RBBP8	High palate	HP:0000218
5932	RBBP8	Intellectual disability	HP:0001249
5932	RBBP8	Short stature	HP:0004322
5932	RBBP8	Microcornea	HP:0000482
5932	RBBP8	Seizures	HP:0001250
5932	RBBP8	Pes planus	HP:0001763
5932	RBBP8	Decreased body weight	HP:0004325
5932	RBBP8	Strabismus	HP:0000486
5932	RBBP8	Growth delay	HP:0001510
5932	RBBP8	Intrauterine growth retardation	HP:0001511
5932	RBBP8	Retinopathy	HP:0000488
5932	RBBP8	Abnormal cortical gyration	HP:0002536
5932	RBBP8	Macular atrophy	HP:0007401
5932	RBBP8	Small anterior fontanelle	HP:0000237
5932	RBBP8	Short foot	HP:0001773
5932	RBBP8	Downslanted palpebral fissures	HP:0000494
5932	RBBP8	Small for gestational age	HP:0001518
5932	RBBP8	Global developmental delay	HP:0001263
5932	RBBP8	Hyperactivity	HP:0000752
5932	RBBP8	Glaucoma	HP:0000501
5932	RBBP8	Cone-shaped epiphyses of the phalanges of the hand	HP:0010230
5932	RBBP8	Cerebellar atrophy	HP:0001272
5932	RBBP8	Visual impairment	HP:0000505
5932	RBBP8	Microcephaly	HP:0000252
5932	RBBP8	Abnormality of bone mineral density	HP:0004348
5932	RBBP8	Abnormal finger flexion creases	HP:0006143
1837	DTNA	Congestive heart failure	HP:0001635
1837	DTNA	Sudden death	HP:0001699
1837	DTNA	Autosomal dominant inheritance	HP:0000006
1837	DTNA	Patent ductus arteriosus	HP:0001643
1837	DTNA	Pulmonary artery hypoplasia	HP:0004971
1837	DTNA	Dilated cardiomyopathy	HP:0001644
1837	DTNA	Sudden cardiac death	HP:0001645
1837	DTNA	Abnormality of the left ventricle	HP:0001711
1837	DTNA	Bicuspid aortic valve	HP:0001647
1837	DTNA	Left ventricular noncompaction cardiomyopathy	HP:0011664
1837	DTNA	Left ventricular hypertrophy	HP:0001712
1837	DTNA	Coarctation of aorta	HP:0001680
1837	DTNA	Ventricular tachycardia	HP:0004756
1837	DTNA	Ventricular arrhythmia	HP:0004308
1837	DTNA	Mitral regurgitation	HP:0001653
1837	DTNA	Atrial fibrillation	HP:0005110
1837	DTNA	Arrhythmia	HP:0011675
1837	DTNA	Restrictive cardiomyopathy	HP:0001723
1837	DTNA	Tricuspid regurgitation	HP:0005180
1837	DTNA	Ventricular septal defect	HP:0001629
1837	DTNA	Hypoplastic left heart	HP:0004383
4645	MYO5B	Villous atrophy	HP:0011473
4645	MYO5B	Protracted diarrhea	HP:0004385
4645	MYO5B	Death in infancy	HP:0001522
4645	MYO5B	Growth delay	HP:0001510
4645	MYO5B	Autosomal recessive inheritance	HP:0000007
4645	MYO5B	Dehydration	HP:0001944
4645	MYO5B	Malabsorption	HP:0002024
4645	MYO5B	Malnutrition	HP:0004395
10892	MALT1	Weight loss	HP:0001824
10892	MALT1	Nausea and vomiting	HP:0002017
10892	MALT1	Pulmonary infiltrates	HP:0002113
10892	MALT1	Immunodeficiency	HP:0002721
10892	MALT1	Constipation	HP:0002019
10892	MALT1	Growth delay	HP:0001510
10892	MALT1	Abnormality of the gastric mucosa	HP:0004295
10892	MALT1	Autosomal recessive inheritance	HP:0000007
10892	MALT1	Abdominal pain	HP:0002027
10892	MALT1	Osteoporosis	HP:0000939
10892	MALT1	Recurrent viral infections	HP:0004429
10892	MALT1	Hyperhidrosis	HP:0000975
10892	MALT1	Mediastinal lymphadenopathy	HP:0100721
10892	MALT1	Abnormality of temperature regulation	HP:0004370
10892	MALT1	Inflammatory abnormality of the eye	HP:0100533
10892	MALT1	Abnormality of the thyroid gland	HP:0000820
10892	MALT1	Lacrimation abnormality	HP:0000632
10892	MALT1	Hematological neoplasm	HP:0004377
10892	MALT1	Recurrent respiratory infections	HP:0002205
10892	MALT1	Delayed skeletal maturation	HP:0002750
10892	MALT1	Recurrent bacterial infections	HP:0002718
30062	RAX	Optic nerve hypoplasia	HP:0000609
30062	RAX	Postaxial polydactyly	HP:0100259
30062	RAX	Microcornea	HP:0000482
30062	RAX	Aplasia of the testes	HP:0010469
30062	RAX	Strabismus	HP:0000486
30062	RAX	Cataract	HP:0000518
30062	RAX	Autosomal dominant inheritance	HP:0000006
30062	RAX	Autosomal recessive inheritance	HP:0000007
30062	RAX	Sclerocornea	HP:0000647
30062	RAX	Miosis	HP:0000616
30062	RAX	Coloboma	HP:0000589
30062	RAX	Anophthalmia	HP:0000528
30062	RAX	High-grade hypermetropia	HP:0008499
30062	RAX	Glaucoma	HP:0000501
30062	RAX	Microphthalmia	HP:0000568
30062	RAX	Ankyloblepharon	HP:0009755
30062	RAX	Retinal detachment	HP:0000541
30062	RAX	Nystagmus	HP:0000639
9150	CTDP1	Genu recurvatum	HP:0002816
9150	CTDP1	Cataract	HP:0000518
9150	CTDP1	Congenital cataract	HP:0000519
9150	CTDP1	Autosomal recessive inheritance	HP:0000007
9150	CTDP1	Incoordination	HP:0002311
9150	CTDP1	Infantile onset	HP:0003593
9150	CTDP1	Motor polyneuropathy	HP:0007178
9150	CTDP1	Cerebral atrophy	HP:0002059
9150	CTDP1	Camptodactyly of finger	HP:0100490
9150	CTDP1	Peripheral hypomyelination	HP:0007182
9150	CTDP1	Primary amenorrhea	HP:0000786
9150	CTDP1	Split hand	HP:0001171
9150	CTDP1	Long face	HP:0000276
9150	CTDP1	Decreased serum estradiol	HP:0008214
9150	CTDP1	Chorea	HP:0002072
9150	CTDP1	Decreased testicular size	HP:0008734
9150	CTDP1	Babinski sign	HP:0003487
9150	CTDP1	Abnormality of the teeth	HP:0000164
9150	CTDP1	Hypogonadotrophic hypogonadism	HP:0000044
9150	CTDP1	Hypergonadotropic hypogonadism	HP:0000815
9150	CTDP1	Abnormality of movement	HP:0100022
9150	CTDP1	Cognitive impairment	HP:0100543
9150	CTDP1	Kyphoscoliosis	HP:0002751
9150	CTDP1	Ventriculomegaly	HP:0002119
9150	CTDP1	Cerebral cortical atrophy	HP:0002120
9150	CTDP1	Abnormality of the genital system	HP:0000078
9150	CTDP1	Abnormal facial shape	HP:0001999
9150	CTDP1	Peripheral demyelination	HP:0011096
9150	CTDP1	Scoliosis	HP:0002650
9150	CTDP1	Micrognathia	HP:0000347
9150	CTDP1	Pes cavus	HP:0001761
9150	CTDP1	Intellectual disability	HP:0001249
9150	CTDP1	Short stature	HP:0004322
9150	CTDP1	Microcornea	HP:0000482
9150	CTDP1	Talipes equinovarus	HP:0001762
9150	CTDP1	Ataxia	HP:0001251
9150	CTDP1	Strabismus	HP:0000486
9150	CTDP1	Decreased motor nerve conduction velocity	HP:0003431
9150	CTDP1	Intrauterine growth retardation	HP:0001511
9150	CTDP1	Acute rhabdomyolysis	HP:0008942
9150	CTDP1	Global developmental delay	HP:0001263
9150	CTDP1	Abnormal nasal morphology	HP:0005105
9150	CTDP1	Abnormality of the eyelashes	HP:0000499
9150	CTDP1	Motor delay	HP:0001270
9150	CTDP1	Kyphosis	HP:0002808
9150	CTDP1	Aplasia/Hypoplasia affecting the eye	HP:0008056
9150	CTDP1	Decreased nerve conduction velocity	HP:0000762
9150	CTDP1	Peripheral axonal degeneration	HP:0000764
9150	CTDP1	Malar prominence	HP:0010620
9150	CTDP1	Reduced bone mineral density	HP:0004349
9150	CTDP1	Nystagmus	HP:0000639
113179	ADAT3	Intellectual disability	HP:0001249
113179	ADAT3	Failure to thrive	HP:0001508
113179	ADAT3	Muscular hypotonia	HP:0001252
113179	ADAT3	Esotropia	HP:0000565
113179	ADAT3	Autosomal recessive inheritance	HP:0000007
113179	ADAT3	Infantile onset	HP:0003593
113179	ADAT3	Microcephaly	HP:0000252
9361	LONP1	Omphalocele	HP:0001539
9361	LONP1	Brachydactyly syndrome	HP:0001156
9361	LONP1	Cataract	HP:0000518
9361	LONP1	Congenital cataract	HP:0000519
9361	LONP1	Autosomal recessive inheritance	HP:0000007
9361	LONP1	Abnormality of the metacarpal bones	HP:0001163
9361	LONP1	Overfolded helix	HP:0000396
9361	LONP1	Rectovaginal fistula	HP:0000143
9361	LONP1	Malar flattening	HP:0000272
9361	LONP1	Proximal placement of thumb	HP:0009623
9361	LONP1	Sensorineural hearing impairment	HP:0000407
9361	LONP1	Polyhydramnios	HP:0001561
9361	LONP1	Hypoplasia of dental enamel	HP:0006297
9361	LONP1	Midline defect of the nose	HP:0004122
9361	LONP1	Cryptorchidism	HP:0000028
9361	LONP1	Epicanthus	HP:0000286
9361	LONP1	Metaphyseal dysplasia	HP:0100255
9361	LONP1	Hypoplasia of the corpus callosum	HP:0002079
9361	LONP1	Depressed nasal bridge	HP:0005280
9361	LONP1	Short humerus	HP:0005792
9361	LONP1	Atrioventricular canal defect	HP:0006695
9361	LONP1	Genu valgum	HP:0002857
9361	LONP1	Abnormality of dental enamel	HP:0000682
9361	LONP1	Abnormality of epiphysis morphology	HP:0005930
9361	LONP1	Delayed eruption of teeth	HP:0000684
9361	LONP1	Abnormality of the upper urinary tract	HP:0010935
9361	LONP1	Delayed skeletal maturation	HP:0002750
9361	LONP1	Cognitive impairment	HP:0100543
9361	LONP1	Delayed ossification of carpal bones	HP:0001216
9361	LONP1	Short metacarpal	HP:0010049
9361	LONP1	Vocal cord paresis	HP:0001604
9361	LONP1	Abnormality of the hip bone	HP:0003272
9361	LONP1	Short phalanx of finger	HP:0009803
9361	LONP1	Anteverted nares	HP:0000463
9361	LONP1	Abnormality of dental morphology	HP:0006482
9361	LONP1	Coronal cleft vertebrae	HP:0003417
9361	LONP1	Scoliosis	HP:0002650
9361	LONP1	Ventricular septal defect	HP:0001629
9361	LONP1	Congenital hip dislocation	HP:0001374
9361	LONP1	Atria septal defect	HP:0001631
9361	LONP1	Seizures	HP:0001250
9361	LONP1	Short stature	HP:0004322
9361	LONP1	Muscular hypotonia	HP:0001252
9361	LONP1	Strabismus	HP:0000486
9361	LONP1	Joint hypermobility	HP:0001382
9361	LONP1	Anal atresia	HP:0002023
9361	LONP1	Squared iliac bones	HP:0003177
9361	LONP1	Global developmental delay	HP:0001263
9361	LONP1	Hypoplasia of the odontoid process	HP:0003311
9361	LONP1	Abnormal form of the vertebral bodies	HP:0003312
9361	LONP1	Broad skull	HP:0002682
9361	LONP1	Extrahepatic biliary duct atresia	HP:0005242
9361	LONP1	Short nose	HP:0003196
9361	LONP1	Ptosis	HP:0000508
9361	LONP1	Nystagmus	HP:0000639
3949	LDLR	Increased circulating very-low-density lipoprotein cholesterol	HP:0003362
3949	LDLR	Hypercholesterolemia	HP:0003124
3949	LDLR	Autosomal recessive inheritance	HP:0000007
3949	LDLR	Tendon xanthomatosis	HP:0010874
3949	LDLR	Xanthelasma	HP:0001114
3949	LDLR	Corneal arcus	HP:0001084
3949	LDLR	Atherosclerosis	HP:0002621
3949	LDLR	Xanthomatosis	HP:0000991
811	CALR	Amaurosis fugax	HP:0100576
811	CALR	Thrombophlebitis	HP:0004418
811	CALR	Arterial thrombosis	HP:0004420
811	CALR	Autosomal dominant inheritance	HP:0000006
811	CALR	Thrombocytosis	HP:0001894
811	CALR	Myelofibrosis	HP:0011974
811	CALR	Acrocyanosis	HP:0001063
811	CALR	Abnormality of coagulation	HP:0001928
811	CALR	Paresthesia	HP:0003401
811	CALR	Myeloproliferative disorder	HP:0005547
811	CALR	Chest pain	HP:0100749
811	CALR	Cerebral ischemia	HP:0002637
811	CALR	Coronary artery disease	HP:0001677
811	CALR	Myelodysplasia	HP:0002863
811	CALR	Splenomegaly	HP:0001744
811	CALR	Abnormality of thrombocytes	HP:0001872
811	CALR	Somatic mutation	HP:0001428
811	CALR	Impaired platelet aggregation	HP:0003540
811	CALR	Hypertension	HP:0000822
811	CALR	Acute leukemia	HP:0002488
811	CALR	Abnormality of bone marrow cell morphology	HP:0005561
811	CALR	Abnormality of the skeletal system	HP:0000924
1548	CYP2A6	Abnormality of metabolism/homeostasis	HP:0001939
1548	CYP2A6	Autosomal dominant inheritance	HP:0000006
1548	CYP2A6	Abnormality of blood and blood-forming tissues	HP:0001871
1954	MEGF8	Pectus carinatum	HP:0000768
1954	MEGF8	Umbilical hernia	HP:0001537
1954	MEGF8	Joint contracture of the hand	HP:0009473
1954	MEGF8	Omphalocele	HP:0001539
1954	MEGF8	Brachydactyly syndrome	HP:0001156
1954	MEGF8	Transposition of the great arteries	HP:0001669
1954	MEGF8	Oxycephaly	HP:0000263
1954	MEGF8	Autosomal recessive inheritance	HP:0000007
1954	MEGF8	Complete duplication of proximal phalanx of the thumb	HP:0009608
1954	MEGF8	Optic atrophy	HP:0000648
1954	MEGF8	Postaxial hand polydactyly	HP:0001162
1954	MEGF8	Cerebral atrophy	HP:0002059
1954	MEGF8	Large foramen magnum	HP:0002700
1954	MEGF8	Malar flattening	HP:0000272
1954	MEGF8	Conductive hearing impairment	HP:0000405
1954	MEGF8	Retrognathia	HP:0000278
1954	MEGF8	Sparse eyebrow	HP:0000535
1954	MEGF8	Sensorineural hearing impairment	HP:0000407
1954	MEGF8	Hypoplasia of midface	HP:0011800
1954	MEGF8	Genu varum	HP:0002970
1954	MEGF8	Protruding ear	HP:0000411
1954	MEGF8	Cryptorchidism	HP:0000028
1954	MEGF8	Epicanthus	HP:0000286
1954	MEGF8	Depressed nasal bridge	HP:0005280
1954	MEGF8	Situs inversus totalis	HP:0001696
1954	MEGF8	Postaxial polydactyly	HP:0100259
1954	MEGF8	Preaxial polydactyly	HP:0100258
1954	MEGF8	Underdeveloped supraorbital ridges	HP:0009891
1954	MEGF8	Pseudoepiphyses of the proximal phalanges of the hand	HP:0010275
1954	MEGF8	Broad thumb	HP:0011304
1954	MEGF8	External genital hypoplasia	HP:0003241
1954	MEGF8	Genu valgum	HP:0002857
1954	MEGF8	Wide nasal bridge	HP:0000431
1954	MEGF8	Metatarsus adductus	HP:0001840
1954	MEGF8	Shawl scrotum	HP:0000049
1954	MEGF8	Preaxial foot polydactyly	HP:0001841
1954	MEGF8	Flared iliac wings	HP:0002869
1954	MEGF8	Micropenis	HP:0000054
1954	MEGF8	Cutaneous finger syndactyly	HP:0010554
1954	MEGF8	Precocious puberty	HP:0000826
1954	MEGF8	Hypertelorism	HP:0000316
1954	MEGF8	Narrow palate	HP:0000189
1954	MEGF8	Persistence of primary teeth	HP:0006335
1954	MEGF8	Sacral dimple	HP:0000960
1954	MEGF8	Upslanted palpebral fissure	HP:0000582
1954	MEGF8	Hypoplasia of the maxilla	HP:0000327
1954	MEGF8	Hydroureter	HP:0000072
1954	MEGF8	Aplasia/Hypoplasia of the corpus callosum	HP:0007370
1954	MEGF8	Cutis laxa	HP:0000973
1954	MEGF8	Agenesis of permanent teeth	HP:0006349
1954	MEGF8	Anteverted nares	HP:0000463
1954	MEGF8	Opacification of the corneal stroma	HP:0007759
1954	MEGF8	Webbed neck	HP:0000465
1954	MEGF8	Wide intermamillary distance	HP:0006610
1954	MEGF8	Aplasia/Hypoplasia of the middle phalanges of the toes	HP:0010194
1954	MEGF8	Polysplenia	HP:0001748
1954	MEGF8	Short neck	HP:0000470
1954	MEGF8	Frontal bossing	HP:0002007
1954	MEGF8	Coronal craniosynostosis	HP:0004440
1954	MEGF8	High palate	HP:0000218
1954	MEGF8	Sagittal craniosynostosis	HP:0004442
1954	MEGF8	Scoliosis	HP:0002650
1954	MEGF8	Micrognathia	HP:0000347
1954	MEGF8	Lambdoidal craniosynostosis	HP:0004443
1954	MEGF8	Ventricular septal defect	HP:0001629
1954	MEGF8	Atria septal defect	HP:0001631
1954	MEGF8	Camptodactyly	HP:0012385
1954	MEGF8	Intellectual disability	HP:0001249
1954	MEGF8	Talipes equinovarus	HP:0001762
1954	MEGF8	Spina bifida occulta	HP:0003298
1954	MEGF8	Microcornea	HP:0000482
1954	MEGF8	Short stature	HP:0004322
1954	MEGF8	Tetralogy of Fallot	HP:0001636
1954	MEGF8	Obesity	HP:0001513
1954	MEGF8	Toe syndactyly	HP:0001770
1954	MEGF8	Pulmonic stenosis	HP:0001642
1954	MEGF8	Patent ductus arteriosus	HP:0001643
1954	MEGF8	Duplication of the proximal phalanx of the hallux	HP:0010093
1954	MEGF8	Shallow acetabular fossae	HP:0003182
1954	MEGF8	Low-set ears	HP:0000369
1954	MEGF8	Coxa valga	HP:0002673
1954	MEGF8	Clinodactyly of the 5th finger	HP:0004209
1954	MEGF8	Trigonocephaly	HP:0000243
1954	MEGF8	Preauricular pit	HP:0004467
1954	MEGF8	Aplasia/Hypoplasia of the middle phalanges of the hand	HP:0009843
1954	MEGF8	Brachycephaly	HP:0000248
1954	MEGF8	Highly arched eyebrow	HP:0002553
1954	MEGF8	Abnormality of the pinna	HP:0000377
1954	MEGF8	Telecanthus	HP:0000506
1954	MEGF8	Coxa vara	HP:0002812
1954	MEGF8	Hypoplastic nipples	HP:0002557
1954	MEGF8	Lateral displacement of patellae	HP:0006397
1954	MEGF8	Supernumerary nipple	HP:0002558
1954	MEGF8	Hydronephrosis	HP:0000126
1954	MEGF8	Pectus excavatum	HP:0000767
1954	MEGF8	Aplasia of the middle phalanx of the hand	HP:0010239
343637	RSPO4	Onycholysis of distal fingernails	HP:0008400
343637	RSPO4	Nail dysplasia	HP:0002164
343637	RSPO4	Nail dystrophy	HP:0008404
343637	RSPO4	Autosomal dominant inheritance	HP:0000006
343637	RSPO4	Anonychia	HP:0001798
343637	RSPO4	Autosomal recessive inheritance	HP:0000007
343637	RSPO4	Absent toenail	HP:0001802
343637	RSPO4	Tapered distal phalanges of finger	HP:0009884
343637	RSPO4	Congenital hip dislocation	HP:0001374
83737	ITCH	Hepatomegaly	HP:0002240
83737	ITCH	Camptodactyly	HP:0012385
83737	ITCH	Relative macrocephaly	HP:0004482
83737	ITCH	Clinodactyly	HP:0030084
83737	ITCH	Posteriorly rotated ears	HP:0000358
83737	ITCH	Autosomal recessive inheritance	HP:0000007
83737	ITCH	Proptosis	HP:0000520
83737	ITCH	Short chin	HP:0000331
83737	ITCH	Dolichocephaly	HP:0000268
83737	ITCH	Chronic diarrhea	HP:0002028
83737	ITCH	Prominent occiput	HP:0000269
83737	ITCH	Abnormal facial shape	HP:0001999
83737	ITCH	Global developmental delay	HP:0001263
83737	ITCH	Splenomegaly	HP:0001744
83737	ITCH	Autoimmunity	HP:0002960
83737	ITCH	Low-set ears	HP:0000369
83737	ITCH	Frontal bossing	HP:0002007
25939	SAMHD1	Spastic tetraparesis	HP:0001285
25939	SAMHD1	Autosomal dominant inheritance	HP:0000006
25939	SAMHD1	Autosomal recessive inheritance	HP:0000007
25939	SAMHD1	Infantile onset	HP:0003593
25939	SAMHD1	Cerebral atrophy	HP:0002059
25939	SAMHD1	Intellectual disability, profound	HP:0002187
25939	SAMHD1	Dolichocephaly	HP:0000268
25939	SAMHD1	Tetraplegia	HP:0002445
25939	SAMHD1	Arthralgia	HP:0002829
25939	SAMHD1	Morphological abnormality of the pyramidal tract	HP:0002062
25939	SAMHD1	Rigidity	HP:0002063
25939	SAMHD1	Progressive encephalopathy	HP:0002448
25939	SAMHD1	Encephalopathy	HP:0001298
25939	SAMHD1	Hemiplegia/hemiparesis	HP:0004374
25939	SAMHD1	Abnormality of extrapyramidal motor function	HP:0002071
25939	SAMHD1	Atopic dermatitis	HP:0001047
25939	SAMHD1	Fever	HP:0001945
25939	SAMHD1	Hepatosplenomegaly	HP:0001433
25939	SAMHD1	Deep white matter hypodensities	HP:0007321
25939	SAMHD1	Dense calcifications in the cerebellar dentate nucleus	HP:0002461
25939	SAMHD1	Hypoplasia of the corpus callosum	HP:0002079
25939	SAMHD1	Delayed myelination	HP:0012448
25939	SAMHD1	Juvenile onset	HP:0003621
25939	SAMHD1	Antinuclear antibody positivity	HP:0003493
25939	SAMHD1	Acrocyanosis	HP:0001063
25939	SAMHD1	Feeding difficulties in infancy	HP:0008872
25939	SAMHD1	Multiple gastric polyps	HP:0004394
25939	SAMHD1	Loss of ability to walk	HP:0006957
25939	SAMHD1	Leukoencephalopathy	HP:0002352
25939	SAMHD1	Limb joint contracture	HP:0003121
25939	SAMHD1	Prolonged neonatal jaundice	HP:0006579
25939	SAMHD1	Dystonia	HP:0001332
25939	SAMHD1	Tremor	HP:0001337
25939	SAMHD1	Convex nasal ridge	HP:0000444
25939	SAMHD1	Abnormality of the nail	HP:0001597
25939	SAMHD1	Cognitive impairment	HP:0100543
25939	SAMHD1	Feeding difficulties	HP:0011968
25939	SAMHD1	Absent speech	HP:0001344
25939	SAMHD1	Hepatomegaly	HP:0002240
25939	SAMHD1	Loss of speech	HP:0002371
25939	SAMHD1	Hyperreflexia	HP:0001347
25939	SAMHD1	Petechiae	HP:0000967
25939	SAMHD1	Ventriculomegaly	HP:0002119
25939	SAMHD1	Calcification of the small brain vessels	HP:0002504
25939	SAMHD1	Developmental regression	HP:0002376
25939	SAMHD1	Vasculitis	HP:0002633
25939	SAMHD1	Plagiocephaly	HP:0001357
25939	SAMHD1	Increased antibody level in blood	HP:0010702
25939	SAMHD1	Splenomegaly	HP:0001744
25939	SAMHD1	Severe global developmental delay	HP:0011344
25939	SAMHD1	Holoprosencephaly	HP:0001360
25939	SAMHD1	Thrombocytopenia	HP:0001873
25939	SAMHD1	Cerebral calcification	HP:0002514
25939	SAMHD1	Purpura	HP:0000979
25939	SAMHD1	Pancytopenia	HP:0001876
25939	SAMHD1	Porencephaly	HP:0002132
25939	SAMHD1	Hemolytic anemia	HP:0001878
25939	SAMHD1	CSF lymphocytic pleiocytosis	HP:0200149
25939	SAMHD1	Basal ganglia calcification	HP:0002135
25939	SAMHD1	Elevated hepatic transaminases	HP:0002910
25939	SAMHD1	Cutaneous photosensitivity	HP:0000992
25939	SAMHD1	Intellectual disability	HP:0001249
25939	SAMHD1	Irritability	HP:0000737
25939	SAMHD1	Seizures	HP:0001250
25939	SAMHD1	Short stature	HP:0004322
25939	SAMHD1	Nephrotic syndrome	HP:0000100
25939	SAMHD1	Muscular hypotonia	HP:0001252
25939	SAMHD1	Decreased body weight	HP:0004325
25939	SAMHD1	Strabismus	HP:0000486
25939	SAMHD1	Intellectual disability, progressive	HP:0006887
25939	SAMHD1	Intrauterine growth retardation	HP:0001511
25939	SAMHD1	Muscular hypotonia of the trunk	HP:0008936
25939	SAMHD1	Chronic CSF lymphocytosis	HP:0009704
25939	SAMHD1	Spasticity	HP:0001257
25939	SAMHD1	Skin ulcer	HP:0200042
25939	SAMHD1	Spastic paraplegia	HP:0001258
25939	SAMHD1	Death in childhood	HP:0003819
25939	SAMHD1	Dysarthria	HP:0001260
25939	SAMHD1	Increased CSF interferon alpha	HP:0009709
25939	SAMHD1	Chilblain lesions	HP:0009710
25939	SAMHD1	Hydrocephalus	HP:0000238
25939	SAMHD1	Global developmental delay	HP:0001263
25939	SAMHD1	Leukodystrophy	HP:0002415
25939	SAMHD1	Intellectual disability, severe	HP:0010864
25939	SAMHD1	Abnormality of eye movement	HP:0000496
25939	SAMHD1	Low-set ears	HP:0000369
25939	SAMHD1	Cleft eyelid	HP:0000625
25939	SAMHD1	Poor head control	HP:0002421
25939	SAMHD1	Cerebellar atrophy	HP:0001272
25939	SAMHD1	Microcephaly	HP:0000252
25939	SAMHD1	Ptosis	HP:0000508
25939	SAMHD1	Hypertonia	HP:0001276
25939	SAMHD1	Progressive microcephaly	HP:0000253
25939	SAMHD1	Nystagmus	HP:0000639
5740	PTGIS	Multifactorial inheritance	HP:0001426
5740	PTGIS	Elevated systolic blood pressure	HP:0004421
5740	PTGIS	Elevated mean arterial pressure	HP:0004972
5740	PTGIS	Elevated diastolic blood pressure	HP:0005117
23394	ADNP	Feeding difficulties	HP:0011968
23394	ADNP	Obsessive-compulsive behavior	HP:0000722
23394	ADNP	Prominent forehead	HP:0011220
23394	ADNP	Abnormality of cardiovascular system morphology	HP:0030680
23394	ADNP	Autistic behavior	HP:0000729
23394	ADNP	Thin upper lip vermilion	HP:0000219
23394	ADNP	Hypermetropia	HP:0000540
23394	ADNP	Stereotypic behavior	HP:0000733
23394	ADNP	Recurrent infections	HP:0002719
23394	ADNP	Language impairment	HP:0002463
23394	ADNP	Intellectual disability	HP:0001249
23394	ADNP	Short stature	HP:0004322
23394	ADNP	Seizures	HP:0001250
23394	ADNP	Muscular hypotonia	HP:0001252
23394	ADNP	Strabismus	HP:0000486
23394	ADNP	Obesity	HP:0001513
23394	ADNP	Joint laxity	HP:0001388
23394	ADNP	Downslanted palpebral fissures	HP:0000494
23394	ADNP	Global developmental delay	HP:0001263
23394	ADNP	Wide nasal bridge	HP:0000431
23394	ADNP	Hyperactivity	HP:0000752
23394	ADNP	Cleft eyelid	HP:0000625
23394	ADNP	Small hand	HP:0200055
23394	ADNP	Visual impairment	HP:0000505
23394	ADNP	Short nose	HP:0003196
23394	ADNP	Ptosis	HP:0000508
23394	ADNP	Smooth philtrum	HP:0000319
57167	SALL4	Cataract	HP:0000518
57167	SALL4	Autosomal dominant inheritance	HP:0000006
57167	SALL4	Intestinal malrotation	HP:0002566
57167	SALL4	Radial deviation of the hand	HP:0009486
57167	SALL4	Epicanthus	HP:0000286
57167	SALL4	Impaired ocular adduction	HP:0000542
57167	SALL4	External ophthalmoplegia	HP:0000544
57167	SALL4	Hypoplasia of deltoid muscle	HP:0030241
57167	SALL4	Pectoralis hypoplasia	HP:0008998
57167	SALL4	Absent thumb	HP:0009777
57167	SALL4	Preaxial foot polydactyly	HP:0001841
57167	SALL4	Short thumb	HP:0009778
57167	SALL4	Short 1st metacarpal	HP:0010034
57167	SALL4	Abnormal dermatoglyphics	HP:0007477
57167	SALL4	Chorioretinal coloboma	HP:0000567
57167	SALL4	Microphthalmia	HP:0000568
57167	SALL4	Upper limb muscle hypoplasia	HP:0009016
57167	SALL4	Sandal gap	HP:0001852
57167	SALL4	Hypertelorism	HP:0000316
57167	SALL4	Aplasia of metacarpal bones	HP:0010048
57167	SALL4	Facial asymmetry	HP:0000324
57167	SALL4	Blepharophimosis	HP:0000581
57167	SALL4	Vesicoureteral reflux	HP:0000076
57167	SALL4	Optic nerve coloboma	HP:0000588
57167	SALL4	Thrombocytopenia	HP:0001873
57167	SALL4	Horseshoe kidney	HP:0000085
57167	SALL4	Optic disc hypoplasia	HP:0007766
57167	SALL4	Renal hypoplasia	HP:0000089
57167	SALL4	Scoliosis	HP:0002650
57167	SALL4	Talipes	HP:0001883
57167	SALL4	Ventricular septal defect	HP:0001629
57167	SALL4	Vertebral segmentation defect	HP:0003422
57167	SALL4	Atria septal defect	HP:0001631
57167	SALL4	Limitation of joint mobility	HP:0001376
57167	SALL4	Iris coloboma	HP:0000612
57167	SALL4	Tetralogy of Fallot	HP:0001636
57167	SALL4	Renal agenesis	HP:0000104
57167	SALL4	Renal malrotation	HP:0004712
57167	SALL4	Limited wrist movement	HP:0006248
57167	SALL4	Impaired convergence	HP:0000619
57167	SALL4	Hearing impairment	HP:0000365
57167	SALL4	Aplasia/Hypoplasia affecting the eye	HP:0008056
57167	SALL4	Abnormality of the clavicle	HP:0000889
57167	SALL4	Impaired ocular abduction	HP:0000634
57167	SALL4	Short hallux	HP:0010109
57167	SALL4	Hydronephrosis	HP:0000126
57167	SALL4	Nystagmus	HP:0000639
57167	SALL4	Crossed fused renal ectopia	HP:0004736
57167	SALL4	Aplasia/Hypoplasia of the thumb	HP:0009601
57167	SALL4	Facial palsy	HP:0010628
57167	SALL4	Fused cervical vertebrae	HP:0002949
57167	SALL4	Absent radius	HP:0003974
57167	SALL4	Syndactyly	HP:0001159
57167	SALL4	Optic atrophy	HP:0000648
57167	SALL4	Slit-like opening of the exterior auditory meatus	HP:0008588
57167	SALL4	Rectovaginal fistula	HP:0000143
57167	SALL4	Palpebral fissure narrowing on adduction	HP:0000661
57167	SALL4	Conductive hearing impairment	HP:0000405
57167	SALL4	Sensorineural hearing impairment	HP:0000407
57167	SALL4	Preaxial hand polydactyly	HP:0001177
57167	SALL4	Arrhythmia	HP:0011675
57167	SALL4	Radioulnar synostosis	HP:0002974
57167	SALL4	Short humerus	HP:0005792
57167	SALL4	Preaxial polydactyly	HP:0100258
57167	SALL4	Hypoplasia of the radius	HP:0002984
57167	SALL4	Triphalangeal thumb	HP:0001199
57167	SALL4	Limited interphalangeal movement	HP:0006064
57167	SALL4	Limited elbow movement	HP:0002996
57167	SALL4	Abnormality of the ulna	HP:0002997
57167	SALL4	Leukocytosis	HP:0001974
57167	SALL4	Synostosis of carpal bones	HP:0005048
57167	SALL4	Abnormal localization of kidney	HP:0100542
57167	SALL4	Duane anomaly	HP:0009921
57167	SALL4	Choanal stenosis	HP:0000452
57167	SALL4	Choanal atresia	HP:0000453
57167	SALL4	Aganglionic megacolon	HP:0002251
57167	SALL4	Abnormality of the nasopharynx	HP:0001739
57167	SALL4	Hypoplasia of the ulna	HP:0003022
57167	SALL4	Finger syndactyly	HP:0006101
57167	SALL4	Carpal bone hypoplasia	HP:0001498
57167	SALL4	Radial club hand	HP:0004059
57167	SALL4	Small thenar eminence	HP:0001245
57167	SALL4	Retinal coloboma	HP:0000480
57167	SALL4	Spina bifida occulta	HP:0003298
57167	SALL4	Microcornea	HP:0000482
57167	SALL4	Short stature	HP:0004322
57167	SALL4	Pes planus	HP:0001763
57167	SALL4	Phenotypic variability	HP:0003812
57167	SALL4	Renal hypoplasia/aplasia	HP:0008678
57167	SALL4	Strabismus	HP:0000486
57167	SALL4	Carpal synostosis	HP:0009702
57167	SALL4	Anal atresia	HP:0002023
57167	SALL4	Congenital strabismus	HP:0000487
57167	SALL4	Anal stenosis	HP:0002025
57167	SALL4	Toe syndactyly	HP:0001770
57167	SALL4	Urogenital fistula	HP:0100589
57167	SALL4	Abnormality of the humerus	HP:0003063
57167	SALL4	Visual impairment	HP:0000505
57167	SALL4	Pectoralis major hypoplasia	HP:0008953
57167	SALL4	Ptosis	HP:0000508
2778	GNAS	Macrocephaly	HP:0000256
2778	GNAS	Autosomal dominant inheritance	HP:0000006
2778	GNAS	Cataract	HP:0000518
2778	GNAS	Infantile onset	HP:0003593
2778	GNAS	Hypermelanotic macule	HP:0001034
2778	GNAS	Ectopic calcification	HP:0010766
2778	GNAS	Generalized hyperpigmentation	HP:0007440
2778	GNAS	Coarse facial features	HP:0000280
2778	GNAS	Testicular neoplasm	HP:0010788
2778	GNAS	Juvenile onset	HP:0003621
2778	GNAS	Full cheeks	HP:0000293
2778	GNAS	Short toe	HP:0001831
2778	GNAS	Mood changes	HP:0001575
2778	GNAS	Macronodular adrenal hyperplasia	HP:0008231
2778	GNAS	Long penis	HP:0000040
2778	GNAS	Striae distensae	HP:0001065
2778	GNAS	Hypercortisolism	HP:0001578
2778	GNAS	Primary hypercorticolism	HP:0001579
2778	GNAS	Increased circulating cortisol level	HP:0003118
2778	GNAS	Mandibular prognathia	HP:0000303
2778	GNAS	Choroid plexus calcification	HP:0006960
2778	GNAS	Macroorchidism	HP:0000053
2778	GNAS	Hypothyroidism	HP:0000821
2778	GNAS	Hypertension	HP:0000822
2778	GNAS	Round face	HP:0000311
2778	GNAS	Precocious puberty	HP:0000826
2778	GNAS	Abnormality of the parathyroid gland	HP:0000828
2778	GNAS	Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}	HP:0030269
2778	GNAS	Short metacarpal	HP:0010049
2778	GNAS	Facial asymmetry	HP:0000324
2778	GNAS	Hyperthyroidism	HP:0000836
2778	GNAS	Intestinal polyposis	HP:0200008
2778	GNAS	Hyperparathyroidism	HP:0000843
2778	GNAS	Pituitary adenoma	HP:0002893
2778	GNAS	Growth hormone excess	HP:0000845
2778	GNAS	Pseudohypoparathyroidism	HP:0000852
2778	GNAS	Goiter	HP:0000853
2778	GNAS	Hypocalcemia	HP:0002901
2778	GNAS	Basal ganglia calcification	HP:0002135
2778	GNAS	Hyperphosphatemia	HP:0002905
2778	GNAS	Menstrual irregularities	HP:0000858
2778	GNAS	Progressive	HP:0003676
2778	GNAS	Skeletal dysplasia	HP:0002652
2778	GNAS	Bone pain	HP:0002653
2778	GNAS	Elevated circulating parathyroid hormone (PTH) level	HP:0003165
2778	GNAS	Elevated hepatic transaminases	HP:0002910
2778	GNAS	Limitation of joint mobility	HP:0001376
2778	GNAS	Tall stature	HP:0000098
2778	GNAS	Hypophosphatemia	HP:0002148
2778	GNAS	Prolactin excess	HP:0000870
2778	GNAS	Cardiomyopathy	HP:0001638
2778	GNAS	Decreased circulating ACTH level	HP:0002920
2778	GNAS	Neoplasm	HP:0002664
2778	GNAS	Blindness	HP:0000618
2778	GNAS	Hearing abnormality	HP:0000364
2778	GNAS	Hearing impairment	HP:0000365
2778	GNAS	Pituitary prolactin cell adenoma	HP:0006767
2778	GNAS	Thickened calvaria	HP:0002684
2778	GNAS	Nystagmus	HP:0000639
2778	GNAS	Low urinary cyclic AMP response to PTH administration	HP:0003456
2778	GNAS	Skeletal muscle atrophy	HP:0003202
2778	GNAS	Brachydactyly syndrome	HP:0001156
2778	GNAS	Hypogonadism	HP:0000135
2778	GNAS	Optic atrophy	HP:0000648
2778	GNAS	Abnormality of coagulation	HP:0001928
2778	GNAS	Craniofacial hyperostosis	HP:0004493
2778	GNAS	Hypocalcemic tetany	HP:0003472
2778	GNAS	Sarcoma	HP:0100242
2778	GNAS	Polycystic ovaries	HP:0000147
2778	GNAS	Somatic mutation	HP:0001428
2778	GNAS	Osteoma	HP:0100246
2778	GNAS	Hypoplasia of dental enamel	HP:0006297
2778	GNAS	Carious teeth	HP:0000670
2778	GNAS	Depressed nasal bridge	HP:0005280
2778	GNAS	Sporadic	HP:0003745
2778	GNAS	Somatic mosaicism	HP:0001442
2778	GNAS	Truncal obesity	HP:0001956
2778	GNAS	Short finger	HP:0009381
2778	GNAS	Abnormality of dental enamel	HP:0000682
2778	GNAS	Osteopenia	HP:0000938
2778	GNAS	Osteoporosis	HP:0000939
2778	GNAS	Neoplasm of the breast	HP:0100013
2778	GNAS	Delayed eruption of teeth	HP:0000684
2778	GNAS	Abnormality of the palate	HP:0000174
2778	GNAS	Left ventricular hypertrophy	HP:0001712
2778	GNAS	Dental malocclusion	HP:0000689
2778	GNAS	Abnormality of the skin	HP:0000951
2778	GNAS	Cafe-au-lait spot	HP:0000957
2778	GNAS	Neoplasm of the thyroid gland	HP:0100031
2778	GNAS	Cognitive impairment	HP:0100543
2778	GNAS	Abnormality of the musculature	HP:0003011
2778	GNAS	Thin skin	HP:0000963
2778	GNAS	Pathologic fracture	HP:0002756
2778	GNAS	Recurrent fractures	HP:0002757
2778	GNAS	Psychosis	HP:0000709
2778	GNAS	Osteoarthritis	HP:0002758
2778	GNAS	Agitation	HP:0000713
2778	GNAS	Depression	HP:0000716
2778	GNAS	Bruising susceptibility	HP:0000978
2778	GNAS	Short neck	HP:0000470
2778	GNAS	Galactorrhea	HP:0100829
2778	GNAS	Intellectual disability	HP:0001249
2778	GNAS	Seizures	HP:0001250
2778	GNAS	Short stature	HP:0004322
2778	GNAS	Anxiety	HP:0000739
2778	GNAS	Phenotypic variability	HP:0003812
2778	GNAS	Large cafe-au-lait macules with irregular margins	HP:0005605
2778	GNAS	Growth delay	HP:0001510
2778	GNAS	Obesity	HP:0001513
2778	GNAS	Polyostotic fibrous dysplasia	HP:0010735
2778	GNAS	Pituitary growth hormone cell adenoma	HP:0011760
2778	GNAS	Variable expressivity	HP:0003828
2778	GNAS	Mental deterioration	HP:0001268
2778	GNAS	Short metatarsal	HP:0010743
2778	GNAS	Kyphosis	HP:0002808
2778	GNAS	Reduced bone mineral density	HP:0004349
2778	GNAS	Adult onset	HP:0003581
1908	EDN3	Autosomal dominant inheritance	HP:0000006
1908	EDN3	Autosomal recessive inheritance	HP:0000007
1908	EDN3	Hypogonadism	HP:0000135
1908	EDN3	Spastic paraparesis	HP:0002313
1908	EDN3	Abnormality of the enteric ganglia	HP:0004362
1908	EDN3	Heterogeneous	HP:0001425
1908	EDN3	Abnormality of temperature regulation	HP:0004370
1908	EDN3	Prenatal movement abnormality	HP:0001557
1908	EDN3	Sensorineural hearing impairment	HP:0000407
1908	EDN3	Abnormality of retinal pigmentation	HP:0007703
1908	EDN3	Synophrys	HP:0000664
1908	EDN3	Abnormality of the mouth	HP:0000153
1908	EDN3	Polyhydramnios	HP:0001561
1908	EDN3	Oligohydramnios	HP:0001562
1908	EDN3	Cryptorchidism	HP:0000028
1908	EDN3	Hypopigmented skin patches	HP:0001053
1908	EDN3	Adducted thumb	HP:0001181
1908	EDN3	Weight loss	HP:0001824
1908	EDN3	White forelock	HP:0002211
1908	EDN3	Enterocolitis	HP:0004387
1908	EDN3	Premature graying of hair	HP:0002216
1908	EDN3	Prominent nasal bridge	HP:0000426
1908	EDN3	Respiratory insufficiency	HP:0002093
1908	EDN3	Underdeveloped nasal alae	HP:0000430
1908	EDN3	White eyebrow	HP:0002226
1908	EDN3	White eyelashes	HP:0002227
1908	EDN3	Apnea	HP:0002104
1908	EDN3	Ganglioneuroma	HP:0003005
1908	EDN3	Neuroblastoma	HP:0003006
1908	EDN3	Cognitive impairment	HP:0100543
1908	EDN3	Neoplasm of the thyroid gland	HP:0100031
1908	EDN3	Feeding difficulties	HP:0011968
1908	EDN3	Central hypoventilation	HP:0007110
1908	EDN3	Abdominal distention	HP:0003270
1908	EDN3	Sepsis	HP:0100806
1908	EDN3	Anosmia	HP:0000458
1908	EDN3	Aganglionic megacolon	HP:0002251
1908	EDN3	Intestinal polyposis	HP:0200008
1908	EDN3	Heterochromia iridis	HP:0001100
1908	EDN3	Hyperhidrosis	HP:0000975
1908	EDN3	Abnormality of the macula	HP:0001103
1908	EDN3	Abnormality of the cardiovascular system	HP:0001626
1908	EDN3	Ganglioneuroblastoma	HP:0006747
1908	EDN3	Vomiting	HP:0002013
1908	EDN3	Intestinal obstruction	HP:0005214
1908	EDN3	Diarrhea	HP:0002014
1908	EDN3	Autonomic dysregulation	HP:0002271
1908	EDN3	Nausea and vomiting	HP:0002017
1908	EDN3	Short stature	HP:0004322
1908	EDN3	Seizures	HP:0001250
1908	EDN3	Ataxia	HP:0001251
1908	EDN3	Constipation	HP:0002019
1908	EDN3	Muscular hypotonia	HP:0001252
1908	EDN3	Posteriorly rotated ears	HP:0000358
1908	EDN3	Strabismus	HP:0000486
1908	EDN3	Abdominal pain	HP:0002027
1908	EDN3	Hearing impairment	HP:0000365
1908	EDN3	Downslanted palpebral fissures	HP:0000494
1908	EDN3	Leukodystrophy	HP:0002415
1908	EDN3	Global developmental delay	HP:0001263
1908	EDN3	Low-set ears	HP:0000369
1908	EDN3	Polyneuropathy	HP:0001271
1908	EDN3	Telecanthus	HP:0000506
1908	EDN3	Blue irides	HP:0000635
1908	EDN3	Nystagmus	HP:0000639
1917	EEF1A2	Depressed nasal bridge	HP:0005280
1917	EEF1A2	Intellectual disability	HP:0001249
1917	EEF1A2	Seizures	HP:0001250
1917	EEF1A2	Muscular hypotonia	HP:0001252
1917	EEF1A2	Epileptic encephalopathy	HP:0200134
1917	EEF1A2	Everted lower lip vermilion	HP:0000232
1917	EEF1A2	Deeply set eye	HP:0000490
1917	EEF1A2	Unsteady gait	HP:0002317
1917	EEF1A2	Aggressive behavior	HP:0000718
1917	EEF1A2	Downslanted palpebral fissures	HP:0000494
1917	EEF1A2	Global developmental delay	HP:0001263
1917	EEF1A2	Low-set ears	HP:0000369
1917	EEF1A2	Tented upper lip vermilion	HP:0010804
1917	EEF1A2	Hypsarrhythmia	HP:0002521
1917	EEF1A2	Downturned corners of mouth	HP:0002714
1917	EEF1A2	Microcephaly	HP:0000252
1917	EEF1A2	Epicanthus	HP:0000286
56246	MRAP	Accelerated skeletal maturation	HP:0005616
56246	MRAP	Increased circulating ACTH level	HP:0003154
56246	MRAP	Tall stature	HP:0000098
56246	MRAP	Seizures	HP:0001250
56246	MRAP	Decreased circulating cortisol level	HP:0008163
56246	MRAP	Failure to thrive	HP:0001508
56246	MRAP	Recurrent hypoglycemia	HP:0001988
56246	MRAP	Autosomal recessive inheritance	HP:0000007
56246	MRAP	Hypoglycemia	HP:0001943
56246	MRAP	Hyperpigmentation of the skin	HP:0000953
56246	MRAP	Coma	HP:0001259
56246	MRAP	Recurrent infections	HP:0002719
3460	IFNGR2	Immunodeficiency	HP:0002721
3460	IFNGR2	Autosomal recessive inheritance	HP:0000007
3460	IFNGR2	Recurrent mycobacterial infections	HP:0011274
9992	KCNE2	Prolonged QTc interval	HP:0005184
9992	KCNE2	Torsade de pointes	HP:0001664
9992	KCNE2	Autosomal dominant inheritance	HP:0000006
9992	KCNE2	Atrial flutter	HP:0004749
9992	KCNE2	Coronary artery disease	HP:0001677
9992	KCNE2	Atrioventricular block	HP:0001678
9992	KCNE2	Paroxysmal atrial tachycardia	HP:0006671
9992	KCNE2	Heterogeneous	HP:0001425
9992	KCNE2	Ventricular arrhythmia	HP:0004308
9992	KCNE2	Paroxysmal atrial fibrillation	HP:0004757
9992	KCNE2	Abnormality of the ear	HP:0000598
9992	KCNE2	Prolonged PR interval	HP:0012248
9992	KCNE2	Sinus bradycardia	HP:0001688
9992	KCNE2	ST segment elevation	HP:0012251
9992	KCNE2	Pulmonary embolism	HP:0002204
9992	KCNE2	Cardiac arrest	HP:0001695
9992	KCNE2	Congestive heart failure	HP:0001635
9992	KCNE2	T-wave alternans	HP:0012266
9992	KCNE2	Palpitations	HP:0001962
9992	KCNE2	Sudden cardiac death	HP:0001645
9992	KCNE2	Left ventricular hypertrophy	HP:0001712
9992	KCNE2	Tachycardia	HP:0001649
9992	KCNE2	Aortic valve stenosis	HP:0001650
9992	KCNE2	Atrial fibrillation	HP:0005110
9992	KCNE2	Hypertension	HP:0000822
9992	KCNE2	Prolonged QT interval	HP:0001657
9992	KCNE2	Tricuspid regurgitation	HP:0005180
9992	KCNE2	Bradycardia	HP:0001662
9992	KCNE2	Syncope	HP:0001279
9992	KCNE2	Ventricular fibrillation	HP:0001663
9992	KCNE2	Thromboembolic stroke	HP:0001727
10841	FTCD	Megaloblastic anemia	HP:0001889
10841	FTCD	Intellectual disability	HP:0001249
10841	FTCD	Hypersegmentation of neutrophil nuclei	HP:0004821
10841	FTCD	Growth delay	HP:0001510
10841	FTCD	Autosomal recessive inheritance	HP:0000007
10841	FTCD	Aminoaciduria	HP:0003355
10841	FTCD	Positive ferric chloride test	HP:0003612
4047	LSS	Myopia	HP:0000545
4047	LSS	Choroideremia	HP:0001139
4047	LSS	Autosomal dominant inheritance	HP:0000006
4047	LSS	Congenital cataract	HP:0000519
4047	LSS	Membranous cataract	HP:0010922
4047	LSS	Posterior polar cataract	HP:0001115
4047	LSS	Total cataract	HP:0010700
4047	LSS	Visual loss	HP:0000572
6899	TBX1	Umbilical hernia	HP:0001537
6899	TBX1	Tetany	HP:0001281
6899	TBX1	Multicystic kidney dysplasia	HP:0000003
6899	TBX1	Autosomal dominant inheritance	HP:0000006
6899	TBX1	Cataract	HP:0000518
6899	TBX1	Intestinal malrotation	HP:0002566
6899	TBX1	Autosomal recessive inheritance	HP:0000007
6899	TBX1	Proptosis	HP:0000520
6899	TBX1	Abnormality of female internal genitalia	HP:0000008
6899	TBX1	Abnormality of the thymus	HP:0000777
6899	TBX1	Dolichocephaly	HP:0000268
6899	TBX1	Malar flattening	HP:0000272
6899	TBX1	Displacement of the external urethral meatus	HP:0100627
6899	TBX1	Parathyroid agenesis	HP:0008211
6899	TBX1	Narrow face	HP:0000275
6899	TBX1	Aplasia/Hypoplasia of the thymus	HP:0010515
6899	TBX1	Long face	HP:0000276
6899	TBX1	Retrognathia	HP:0000278
6899	TBX1	Inguinal hernia	HP:0000023
6899	TBX1	Seborrheic dermatitis	HP:0001051
6899	TBX1	Cryptorchidism	HP:0000028
6899	TBX1	Epicanthus	HP:0000286
6899	TBX1	Hypoplastic left heart	HP:0004383
6899	TBX1	Abnormality of the philtrum	HP:0000288
6899	TBX1	Acne	HP:0001061
6899	TBX1	Foot polydactyly	HP:0001829
6899	TBX1	Retinal vascular tortuosity	HP:0012841
6899	TBX1	Bowel incontinence	HP:0002607
6899	TBX1	Specific learning disability	HP:0001328
6899	TBX1	Abnormality of the endocrine system	HP:0000818
6899	TBX1	Asthma	HP:0002099
6899	TBX1	Hypothyroidism	HP:0000821
6899	TBX1	Esotropia	HP:0000565
6899	TBX1	Biliary tract abnormality	HP:0001080
6899	TBX1	Cholelithiasis	HP:0001081
6899	TBX1	Impaired T cell function	HP:0005435
6899	TBX1	Hypertelorism	HP:0000316
6899	TBX1	Hypoparathyroidism	HP:0000829
6899	TBX1	Abnormality of the pulmonary artery	HP:0004414
6899	TBX1	Exotropia	HP:0000577
6899	TBX1	Short philtrum	HP:0000322
6899	TBX1	Right aortic arch with mirror image branching	HP:0002627
6899	TBX1	Hyperthyroidism	HP:0000836
6899	TBX1	Blepharophimosis	HP:0000581
6899	TBX1	Upslanted palpebral fissure	HP:0000582
6899	TBX1	Broad hallux	HP:0010055
6899	TBX1	Abnormality of the voice	HP:0001608
6899	TBX1	Nasal speech	HP:0001611
6899	TBX1	Vesicoureteral reflux	HP:0000076
6899	TBX1	Holoprosencephaly	HP:0001360
6899	TBX1	Broad forehead	HP:0000337
6899	TBX1	Thrombocytopenia	HP:0001873
6899	TBX1	Craniosynostosis	HP:0001363
6899	TBX1	Hypocalcemia	HP:0002901
6899	TBX1	Abnormality of the ear	HP:0000598
6899	TBX1	Abnormality of the pharynx	HP:0000600
6899	TBX1	Arthritis	HP:0001369
6899	TBX1	Scoliosis	HP:0002650
6899	TBX1	Interrupted aortic arch	HP:0011611
6899	TBX1	Micrognathia	HP:0000347
6899	TBX1	Parathyroid hypoplasia	HP:0000860
6899	TBX1	High forehead	HP:0000348
6899	TBX1	Ventricular septal defect	HP:0001629
6899	TBX1	Atria septal defect	HP:0001631
6899	TBX1	Tetralogy of Fallot	HP:0001636
6899	TBX1	Abnormality of chromosome segregation	HP:0002916
6899	TBX1	Abnormality of the pulmonary valve	HP:0001641
6899	TBX1	Attention deficit hyperactivity disorder	HP:0007018
6899	TBX1	Patent ductus arteriosus	HP:0001643
6899	TBX1	Hearing impairment	HP:0000365
6899	TBX1	Renal dysplasia	HP:0000110
6899	TBX1	Chronic obstructive pulmonary disease	HP:0006510
6899	TBX1	Spina bifida	HP:0002414
6899	TBX1	Abnormality of the aortic valve	HP:0001646
6899	TBX1	Low-set, posteriorly rotated ears	HP:0000368
6899	TBX1	Low-set ears	HP:0000369
6899	TBX1	Clinodactyly of the 5th finger	HP:0004209
6899	TBX1	Polycystic kidney dysplasia	HP:0000113
6899	TBX1	Abnormality of the middle ear	HP:0000370
6899	TBX1	Posterior embryotoxon	HP:0000627
6899	TBX1	Preauricular pit	HP:0004467
6899	TBX1	Neurological speech impairment	HP:0002167
6899	TBX1	Aplasia/Hypoplasia affecting the eye	HP:0008056
6899	TBX1	Abnormality of the pinna	HP:0000377
6899	TBX1	Unilateral renal agenesis	HP:0000122
6899	TBX1	Truncus arteriosus	HP:0001660
6899	TBX1	Hydronephrosis	HP:0000126
6899	TBX1	Hypertensive crisis	HP:0100735
6899	TBX1	Abnormality of periauricular region	HP:0000383
6899	TBX1	Abnormality of the hand	HP:0001155
6899	TBX1	Brachydactyly syndrome	HP:0001156
6899	TBX1	Otitis media	HP:0000388
6899	TBX1	Transposition of the great arteries	HP:0001669
6899	TBX1	Amblyopia	HP:0000646
6899	TBX1	Bipolar affective disorder	HP:0007302
6899	TBX1	Sclerocornea	HP:0000647
6899	TBX1	Optic atrophy	HP:0000648
6899	TBX1	Hand polydactyly	HP:0001161
6899	TBX1	Complete atrioventricular canal defect	HP:0001674
6899	TBX1	Overfolded helix	HP:0000396
6899	TBX1	Subcutaneous hemorrhage	HP:0001933
6899	TBX1	Abnormality of the aorta	HP:0001679
6899	TBX1	Atelectasis	HP:0100750
6899	TBX1	Coarctation of aorta	HP:0001680
6899	TBX1	Schizophrenia	HP:0100753
6899	TBX1	Autoimmunity	HP:0002960
6899	TBX1	Abnormality of metabolism/homeostasis	HP:0001939
6899	TBX1	Unilateral primary pulmonary dysgenesis	HP:0006549
6899	TBX1	Bulbous nose	HP:0000414
6899	TBX1	Carious teeth	HP:0000670
6899	TBX1	Recurrent infections	HP:0002719
6899	TBX1	Sporadic	HP:0003745
6899	TBX1	Postaxial polydactyly	HP:0100259
6899	TBX1	Underdeveloped supraorbital ridges	HP:0009891
6899	TBX1	Abnormality of the tricuspid valve	HP:0001702
6899	TBX1	Feeding difficulties in infancy	HP:0008872
6899	TBX1	Prominent nasal bridge	HP:0000426
6899	TBX1	Abnormality of dental enamel	HP:0000682
6899	TBX1	Hypoplasia of the zygomatic bone	HP:0010669
6899	TBX1	Venous insufficiency	HP:0005293
6899	TBX1	Underdeveloped nasal alae	HP:0000430
6899	TBX1	Cleft palate	HP:0000175
6899	TBX1	Aplasia/Hypoplasia of the earlobes	HP:0009906
6899	TBX1	Anterior creases of earlobe	HP:0009908
6899	TBX1	Double outlet right ventricle	HP:0001719
6899	TBX1	Abnormality of the upper urinary tract	HP:0010935
6899	TBX1	Patellar dislocation	HP:0002999
6899	TBX1	Femoral hernia	HP:0100541
6899	TBX1	Cognitive impairment	HP:0100543
6899	TBX1	Gastrointestinal hemorrhage	HP:0002239
6899	TBX1	Bifid uvula	HP:0000193
6899	TBX1	Open mouth	HP:0000194
6899	TBX1	Short palpebral fissure	HP:0012745
6899	TBX1	Pierre-Robin sequence	HP:0000201
6899	TBX1	Depressed nasal ridge	HP:0000457
6899	TBX1	Oral cleft	HP:0000202
6899	TBX1	Aganglionic megacolon	HP:0002251
6899	TBX1	Autism	HP:0000717
6899	TBX1	Aggressive behavior	HP:0000718
6899	TBX1	Mood swings	HP:0000720
6899	TBX1	Splenomegaly	HP:0001744
6899	TBX1	Obsessive-compulsive behavior	HP:0000722
6899	TBX1	Short neck	HP:0000470
6899	TBX1	Abnormality of cardiovascular system morphology	HP:0030680
6899	TBX1	High palate	HP:0000218
6899	TBX1	Velopharyngeal insufficiency	HP:0000220
6899	TBX1	Stereotypic behavior	HP:0000733
6899	TBX1	Paranoia	HP:0011999
6899	TBX1	Intellectual disability	HP:0001249
6899	TBX1	Short stature	HP:0004322
6899	TBX1	Seizures	HP:0001250
6899	TBX1	Abnormality of immune system physiology	HP:0010978
6899	TBX1	Constipation	HP:0002019
6899	TBX1	Muscular hypotonia	HP:0001252
6899	TBX1	Growth delay	HP:0001510
6899	TBX1	Strabismus	HP:0000486
6899	TBX1	Renal hypoplasia/aplasia	HP:0008678
6899	TBX1	Intrauterine growth retardation	HP:0001511
6899	TBX1	Obesity	HP:0001513
6899	TBX1	Thin vermilion border	HP:0000233
6899	TBX1	Urogenital fistula	HP:0100589
6899	TBX1	Delayed speech and language development	HP:0000750
6899	TBX1	Downslanted palpebral fissures	HP:0000494
6899	TBX1	Global developmental delay	HP:0001263
6899	TBX1	Abnormal nasal morphology	HP:0005105
6899	TBX1	Telecanthus	HP:0000506
6899	TBX1	Microcephaly	HP:0000252
6899	TBX1	Ptosis	HP:0000508
6899	TBX1	Abnormality of the thorax	HP:0000765
613	BCR	Aplastic/hypoplastic toenail	HP:0010624
613	BCR	Chronic myelogenous leukemia	HP:0005506
613	BCR	Brachydactyly syndrome	HP:0001156
613	BCR	Anonychia	HP:0001798
613	BCR	Recurrent urinary tract infections	HP:0000010
613	BCR	Camptodactyly of finger	HP:0100490
613	BCR	Arachnodactyly	HP:0001166
613	BCR	Malar flattening	HP:0000272
613	BCR	Oculomotor apraxia	HP:0000657
613	BCR	Somatic mutation	HP:0001428
613	BCR	Long face	HP:0000276
613	BCR	Sensorineural hearing impairment	HP:0000407
613	BCR	Neoplasm of the nervous system	HP:0004375
613	BCR	Short distal phalanx of finger	HP:0009882
613	BCR	Recurrent respiratory infections	HP:0002205
613	BCR	Narrow mouth	HP:0000160
613	BCR	Abnormality of the philtrum	HP:0000288
613	BCR	Prominent nasal bridge	HP:0000426
613	BCR	Hypoplasia of the zygomatic bone	HP:0010669
613	BCR	Underdeveloped nasal alae	HP:0000430
613	BCR	Cleft palate	HP:0000175
613	BCR	Bowel incontinence	HP:0002607
613	BCR	Pointed chin	HP:0000307
613	BCR	Ankyloglossia	HP:0010296
613	BCR	Sandal gap	HP:0001852
613	BCR	Cognitive impairment	HP:0100543
613	BCR	Smooth philtrum	HP:0000319
613	BCR	Acute lymphoblastic leukemia	HP:0006721
613	BCR	Facial asymmetry	HP:0000324
613	BCR	Behavioral abnormality	HP:0000708
613	BCR	Choanal atresia	HP:0000453
613	BCR	Blepharophimosis	HP:0000581
613	BCR	Abnormality of the hip bone	HP:0003272
613	BCR	Hernia of the abdominal wall	HP:0004299
613	BCR	Obsessive-compulsive behavior	HP:0000722
613	BCR	Premature birth	HP:0001622
613	BCR	Bowing of the long bones	HP:0006487
613	BCR	Thin upper lip vermilion	HP:0000219
613	BCR	Ventricular septal defect	HP:0001629
613	BCR	Stereotypic behavior	HP:0000733
613	BCR	Atria septal defect	HP:0001631
613	BCR	Seizures	HP:0001250
613	BCR	Short stature	HP:0004322
613	BCR	Pes planus	HP:0001763
613	BCR	Pyloric stenosis	HP:0002021
613	BCR	Joint hypermobility	HP:0001382
613	BCR	Polygenic inheritance	HP:0010982
613	BCR	Intrauterine growth retardation	HP:0001511
613	BCR	Thin vermilion border	HP:0000233
613	BCR	Toe syndactyly	HP:0001770
613	BCR	Deeply set eye	HP:0000490
613	BCR	Attention deficit hyperactivity disorder	HP:0007018
613	BCR	Hyperlordosis	HP:0003307
613	BCR	Abnormality of the aortic valve	HP:0001646
613	BCR	Global developmental delay	HP:0001263
613	BCR	Ph-positive acute lymphoblastic leukemia	HP:0004848
613	BCR	Clinodactyly of the 5th finger	HP:0004209
613	BCR	Dilatation of the ascending aorta	HP:0005111
613	BCR	Neurological speech impairment	HP:0002167
613	BCR	Highly arched eyebrow	HP:0002553
613	BCR	Ulnar deviation of finger	HP:0009465
613	BCR	External ear malformation	HP:0008572
613	BCR	Truncus arteriosus	HP:0001660
613	BCR	Microcephaly	HP:0000252
613	BCR	Abnormality of periauricular region	HP:0000383
1414	CRYBB1	Pulverulent Cataract	HP:0010693
1414	CRYBB1	Cataract	HP:0000518
1414	CRYBB1	Autosomal dominant inheritance	HP:0000006
1414	CRYBB1	Amblyopia	HP:0000646
1414	CRYBB1	Autosomal recessive inheritance	HP:0000007
1414	CRYBB1	Congenital cataract	HP:0000519
1414	CRYBB1	Sutural cataract	HP:0010695
1414	CRYBB1	Subcapsular cataract	HP:0000523
1414	CRYBB1	Opacification of the corneal stroma	HP:0007759
1414	CRYBB1	Macular hypoplasia	HP:0001104
1414	CRYBB1	Congenital nuclear cataract	HP:0008024
1414	CRYBB1	Progressive cataract	HP:0007834
1414	CRYBB1	Retinal detachment	HP:0000541
1414	CRYBB1	Myopia	HP:0000545
1414	CRYBB1	Microcornea	HP:0000482
1414	CRYBB1	Iris coloboma	HP:0000612
1414	CRYBB1	Cortical pulverulent cataract	HP:0007780
1414	CRYBB1	Photophobia	HP:0000613
1414	CRYBB1	Strabismus	HP:0000486
1414	CRYBB1	Cerulean cataract	HP:0007976
1414	CRYBB1	Diffuse nuclear cataract	HP:0007657
1414	CRYBB1	Corneal dystrophy	HP:0001131
1414	CRYBB1	Nuclear cataract	HP:0100018
1414	CRYBB1	Glaucoma	HP:0000501
1414	CRYBB1	Microphthalmia	HP:0000568
1414	CRYBB1	Visual impairment	HP:0000505
1414	CRYBB1	Nystagmus	HP:0000639
9463	PICK1	Infertility	HP:0000789
9463	PICK1	Autosomal recessive inheritance	HP:0000007
9463	PICK1	Globozoospermia	HP:0012205
6305	SBF1	Intellectual disability	HP:0001249
6305	SBF1	Pes planus	HP:0001763
6305	SBF1	Areflexia	HP:0001284
6305	SBF1	Strabismus	HP:0000486
6305	SBF1	Autosomal recessive inheritance	HP:0000007
6305	SBF1	Syndactyly	HP:0001159
6305	SBF1	Gait disturbance	HP:0001288
6305	SBF1	Urinary incontinence	HP:0000020
6305	SBF1	Onion bulb formation	HP:0003383
6305	SBF1	Distal sensory impairment	HP:0002936
6305	SBF1	Ophthalmoplegia	HP:0000602
6305	SBF1	Scoliosis	HP:0002650
6305	SBF1	Brain atrophy	HP:0012444
6305	SBF1	Microcephaly	HP:0000252
6305	SBF1	Progressive	HP:0003676
9997	SCO2	Peripheral vitreoretinal degeneration	HP:0200071
9997	SCO2	Limited extraocular movements	HP:0007941
9997	SCO2	Cataract	HP:0000518
9997	SCO2	Autosomal dominant inheritance	HP:0000006
9997	SCO2	Autosomal recessive inheritance	HP:0000007
9997	SCO2	Incoordination	HP:0002311
9997	SCO2	Optic atrophy	HP:0000648
9997	SCO2	Infantile onset	HP:0003593
9997	SCO2	CNS demyelination	HP:0007305
9997	SCO2	Heterogeneous	HP:0001425
9997	SCO2	Encephalopathy	HP:0001298
9997	SCO2	Mitochondrial inheritance	HP:0001427
9997	SCO2	Decreased fetal movement	HP:0001558
9997	SCO2	Sensorineural hearing impairment	HP:0000407
9997	SCO2	Retinal detachment	HP:0000541
9997	SCO2	Myopia	HP:0000545
9997	SCO2	Feeding difficulties in infancy	HP:0008872
9997	SCO2	Respiratory insufficiency	HP:0002093
9997	SCO2	Dystonia	HP:0001332
9997	SCO2	Abnormality of movement	HP:0100022
9997	SCO2	Lactic acidosis	HP:0003128
9997	SCO2	Increased CSF lactate	HP:0002490
9997	SCO2	Cognitive impairment	HP:0100543
9997	SCO2	Respiratory failure	HP:0002878
9997	SCO2	Respiratory difficulties	HP:0002880
9997	SCO2	Hyperreflexia	HP:0001347
9997	SCO2	Pigmentary retinopathy	HP:0000580
9997	SCO2	Emotional lability	HP:0000712
9997	SCO2	Short chin	HP:0000331
9997	SCO2	Ophthalmoparesis	HP:0000597
9997	SCO2	Basal ganglia gliosis	HP:0006999
9997	SCO2	Ophthalmoplegia	HP:0000602
9997	SCO2	Progressive	HP:0003676
9997	SCO2	Neuronal loss in central nervous system	HP:0002529
9997	SCO2	Intellectual disability	HP:0001249
9997	SCO2	Seizures	HP:0001250
9997	SCO2	Ataxia	HP:0001251
9997	SCO2	Muscular hypotonia	HP:0001252
9997	SCO2	Failure to thrive	HP:0001508
9997	SCO2	Phenotypic variability	HP:0003812
9997	SCO2	Strabismus	HP:0000486
9997	SCO2	Hypertrichosis	HP:0000998
9997	SCO2	Hypertrophic cardiomyopathy	HP:0001639
9997	SCO2	Increased serum lactate	HP:0002151
9997	SCO2	Abnormal pattern of respiration	HP:0002793
9997	SCO2	Spasticity	HP:0001257
9997	SCO2	Dysarthria	HP:0001260
9997	SCO2	Lens subluxation	HP:0001132
9997	SCO2	Reduced visual acuity	HP:0007663
9997	SCO2	Global developmental delay	HP:0001263
9997	SCO2	Death in infancy	HP:0001522
9997	SCO2	Hepatic steatosis	HP:0001397
9997	SCO2	Increased axial globe length	HP:0007800
9997	SCO2	Visual impairment	HP:0000505
9997	SCO2	Congenital onset	HP:0003577
9997	SCO2	Severe Myopia	HP:0011003
9997	SCO2	Gliosis	HP:0002171
9997	SCO2	Ptosis	HP:0000508
9997	SCO2	Hepatocellular necrosis	HP:0001404
9997	SCO2	Microcephaly	HP:0000252
9997	SCO2	Nystagmus	HP:0000639
410	ARSA	Hyperreflexia	HP:0001347
410	ARSA	Bulbar palsy	HP:0001283
410	ARSA	Loss of speech	HP:0002371
410	ARSA	Abnormality of the cerebral white matter	HP:0002500
410	ARSA	Autosomal recessive inheritance	HP:0000007
410	ARSA	Gait disturbance	HP:0001288
410	ARSA	Emotional lability	HP:0000712
410	ARSA	Optic atrophy	HP:0000648
410	ARSA	Tetraplegia	HP:0002445
410	ARSA	Spastic tetraplegia	HP:0002510
410	ARSA	Urinary incontinence	HP:0000020
410	ARSA	Chorea	HP:0002072
410	ARSA	Peripheral demyelination	HP:0011096
410	ARSA	Progressive peripheral neuropathy	HP:0007133
410	ARSA	Babinski sign	HP:0003487
410	ARSA	Intellectual disability	HP:0001249
410	ARSA	Hallucinations	HP:0000738
410	ARSA	Seizures	HP:0001250
410	ARSA	Ataxia	HP:0001251
410	ARSA	Muscular hypotonia	HP:0001252
410	ARSA	Gallbladder dysfunction	HP:0005609
410	ARSA	Delusions	HP:0000746
410	ARSA	Increased CSF protein	HP:0002922
410	ARSA	Dysarthria	HP:0001260
410	ARSA	Hyporeflexia	HP:0001265
410	ARSA	Mental deterioration	HP:0001268
410	ARSA	Dystonia	HP:0001332
410	ARSA	EMG: neuropathic changes	HP:0003445
410	ARSA	Cholecystitis	HP:0001082
410	ARSA	Decreased nerve conduction velocity	HP:0000762
