TaoMedAI/RareMedData huggingface dataset:
Gene: GCDH
Phenotype: Joint dislocation (HP:0001373)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Dystonia (HP:0001332)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Dystonia (HP:0001332)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Absent speech (HP:0001344)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Tremor (HP:0001337)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Dysphagia (HP:0002015)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Rigidity (HP:0002063)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Rigidity (HP:0002063)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Chorea (HP:0002072)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Opisthotonus (HP:0002179)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Infantile onset (HP:0003593)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Poor motor coordination (HP:0002275)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Elevated circulating glutaric acid concentration (HP:0003530)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Subependymal nodules (HP:0009716)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Elevated urine 3-hydroxyglutaric level (HP:0034656)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Reduced peroxisomal glutaryl-CoA oxidase activity (HP:0034688)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Developmental regression (HP:0002376)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Developmental regression (HP:0002376)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Abnormal caudate nucleus morphology (HP:0002339)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Vertigo (HP:0002321)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Headache (HP:0002315)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Pallidal degeneration (HP:0007132)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Infantile encephalopathy (HP:0007105)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Athetosis (HP:0002305)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Juvenile onset (HP:0003621)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Loss of consciousness (HP:0007185)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Elevated circulating glutarylcarnitine concentration (HP:0033442)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Symmetrical progressive peripheral demyelination (HP:0006873)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Ketosis (HP:0001946)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Abnormal putamen morphology (HP:0031982)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Irritability (HP:0000737)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Dementia (HP:0000726)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Childhood onset (HP:0011463)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: T2 hypointense basal ganglia (HP:0012753)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Glutaric aciduria (HP:0003150)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Glutaric aciduria (HP:0003150)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Progressive macrocephaly (HP:0004481)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Increased head circumference (HP:0040194)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Macrocephaly (HP:0000256)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Ketonuria (HP:0002919)
Associated disease: GLUTARIC ACIDEMIA I (OMIM:231670)
Gene: GCDH
Phenotype: Infantile spasms (HP:0012469)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCDH
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: GA1; Glutaric acidemia type 1; Glutaryl-CoA dehydrogenase deficiency; Glutaryl-coenzyme A dehydrogenase deficiency; Glutaric aciduria type 1; GCDHD (ORPHA:25)
Gene: GCGR
Phenotype: Necrolytic migratory erythema (HP:0031181)
Associated disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Gene: GCGR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MAHVASH DISEASE (OMIM:619290)
Gene: GCGR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: MAHVASH DISEASE (OMIM:619290)
Gene: GCGR
Phenotype: Abdominal pain (HP:0002027)
Associated disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Gene: GCGR
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: MAHVASH DISEASE (OMIM:619290)
Gene: GCGR
Phenotype: Zollinger-Ellison syndrome (HP:0002044)
Associated disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Gene: GCGR
Phenotype: Adult onset (HP:0003581)
Associated disease: MAHVASH DISEASE (OMIM:619290)
Gene: GCGR
Phenotype: Vertigo (HP:0002321)
Associated disease: MAHVASH DISEASE (OMIM:619290)
Gene: GCGR
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Gene: GCGR
Phenotype: Pancreatic alpha-cell hyperplasia (HP:4000061)
Associated disease: MAHVASH DISEASE (OMIM:619290)
Gene: GCGR
Phenotype: Palpitations (HP:0001962)
Associated disease: MAHVASH DISEASE (OMIM:619290)
Gene: GCGR
Phenotype: Increased glucagon level (HP:0030688)
Associated disease: MAHVASH DISEASE (OMIM:619290)
Gene: GCGR
Phenotype: Increased glucagon level (HP:0030688)
Associated disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Gene: GCGR
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: MAHVASH DISEASE (OMIM:619290)
Gene: GCGR
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Gene: GCGR
Phenotype: Stomatitis (HP:0010280)
Associated disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Gene: GCGR
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Gene: GCGR
Phenotype: Abnormal biliary tract morphology (HP:0012440)
Associated disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Gene: GCGR
Phenotype: Glucagonoma (HP:0030404)
Associated disease: GCGR-related hyperglucagonemia; Mahvash disease (ORPHA:438274)
Gene: GCH1
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Excessive salivation (HP:0003781)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Lethargy (HP:0001254)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Dysarthria (HP:0001260)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Spasticity (HP:0001257)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Increased CSF phenylalanine concentration (HP:0500223)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Rheumatoid arthritis (HP:0001370)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Dystonia (HP:0001332)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Dystonia (HP:0001332)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Tremor (HP:0001337)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Paresis of extensor muscles of the big toe (HP:0002601)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Poor suck (HP:0002033)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Dysphagia (HP:0002015)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Elevated urinary sulfatide level (HP:6000120)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Rigidity (HP:0002063)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Rigidity (HP:0002063)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Decreased urinary biopterin level (HP:0040417)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Babinski sign (HP:0003487)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Decreased urinary neopterin level (HP:0040420)
Associated disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B (OMIM:233910)
Gene: GCH1
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)
Gene: GCH1
Phenotype: Postural tremor (HP:0002174)
Associated disease: DYSTONIA, DOPA-RESPONSIVE (OMIM:128230)
Gene: GCH1
Phenotype: Postural tremor (HP:0002174)
Associated disease: Autosomal dominant Segawa syndrome; GTPCH1-deficient dopa-responsive dystonia; DYT5a; Hereditary progressive dystonia with marked diurnal fluctuation; Autosomal dominant dopa-responsive dystonia; GTPCH1-deficient DRD; HPD with marked diurnal fluctuation (ORPHA:98808)