TaoMedAI/RareMedData huggingface dataset:
Gene: HADH
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hypoglycemic coma (HP:0001325)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
Gene: HADH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
Gene: HADH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hepatic necrosis (HP:0002605)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Hepatic necrosis (HP:0002605)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Diarrhea (HP:0002014)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Vomiting (HP:0002013)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hypoglycemic seizures (HP:0002173)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
Gene: HADH
Phenotype: Fasting hyperinsulinemia (HP:0008283)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
Gene: HADH
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
Gene: HADH
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hypoglycemic encephalopathy (HP:0006929)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Hypoglycemic encephalopathy (HP:0006929)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Fulminant hepatic failure (HP:0004448)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Increased circulating free fatty acid level (HP:0030781)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4 (OMIM:609975)
Gene: HADH
Phenotype: Decreased circulating carnitine concentration (HP:0003234)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Dicarboxylic aciduria (HP:0003215)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Growth delay (HP:0001510)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Myoglobinuria (HP:0002913)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:231530)
Gene: HADH
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HADH
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency; Hyperinsulinism due to glutamodehydrogenase deficiency; SCHAD deficiency; Hyperinsulinism due to SCHAD deficiency (ORPHA:71212)
Gene: HAL
Phenotype: Hyperhistidinemia (HP:0010906)
Associated disease: HISTIDINEMIA (OMIM:235800)
Gene: HAL
Phenotype: Hyperhistidinemia (HP:0010906)
Associated disease: HAL deficiency; Histidine ammonia-lyase deficiency; Histidinuria; Histidinemia; Hyperhistidinemia; Histidase deficiency; HIS deficiency (ORPHA:2157)
Gene: HAL
Phenotype: Elevated urinary N-tau-ribosylhistidine level (HP:6000621)
Associated disease: HISTIDINEMIA (OMIM:235800)
Gene: HAL
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HISTIDINEMIA (OMIM:235800)
Gene: HAL
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HAL deficiency; Histidine ammonia-lyase deficiency; Histidinuria; Histidinemia; Hyperhistidinemia; Histidase deficiency; HIS deficiency (ORPHA:2157)
Gene: HAL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HISTIDINEMIA (OMIM:235800)
Gene: HAL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HISTIDINEMIA (OMIM:235800)
Gene: HAL
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: HAL deficiency; Histidine ammonia-lyase deficiency; Histidinuria; Histidinemia; Hyperhistidinemia; Histidase deficiency; HIS deficiency (ORPHA:2157)
Gene: HAL
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease: HAL deficiency; Histidine ammonia-lyase deficiency; Histidinuria; Histidinemia; Hyperhistidinemia; Histidase deficiency; HIS deficiency (ORPHA:2157)
Gene: HAL
Phenotype: Hyperactivity (HP:0000752)
Associated disease: HAL deficiency; Histidine ammonia-lyase deficiency; Histidinuria; Histidinemia; Hyperhistidinemia; Histidase deficiency; HIS deficiency (ORPHA:2157)
Gene: HAL
Phenotype: Atypical behavior (HP:0000708)
Associated disease: HAL deficiency; Histidine ammonia-lyase deficiency; Histidinuria; Histidinemia; Hyperhistidinemia; Histidase deficiency; HIS deficiency (ORPHA:2157)
Gene: HAL
Phenotype: Histidinuria (HP:0002927)
Associated disease: HISTIDINEMIA (OMIM:235800)
Gene: HAL
Phenotype: Histidinuria (HP:0002927)
Associated disease: HAL deficiency; Histidine ammonia-lyase deficiency; Histidinuria; Histidinemia; Hyperhistidinemia; Histidase deficiency; HIS deficiency (ORPHA:2157)
Gene: HARS1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Ataxia (HP:0001251)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Variable expressivity (HP:0003828)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Steppage gait (HP:0003376)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Demyelinating peripheral neuropathy (HP:0007108)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Photophobia (HP:0000613)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Hallucinations (HP:0000738)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Anxiety (HP:0000739)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Depression (HP:0000716)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Slender long bone (HP:0003100)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2W; CMT2W; Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation (ORPHA:488333)
Gene: HARS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)
Gene: HARS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: HARS1
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: HARS1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W (OMIM:616625)
Gene: HARS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: USHER SYNDROME, TYPE IIIB (OMIM:614504)