TaoMedAI/RareMedData huggingface dataset:
Gene: DPYD
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Microphthalmia (HP:0000568)
Associated disease: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY (OMIM:274270)
Gene: DPYD
Phenotype: Myopia (HP:0000545)
Associated disease: Dihydropyrimidine dehydrogenase deficiency; Familial pyrimidinemia (ORPHA:1675)
Gene: DPYD
Phenotype: Myopia (HP:0000545)
Associated disease: Del(1)(p21.3); 1p21.3 microdeletion syndrome; Monosomy 1p21.3 (ORPHA:293948)
Gene: DPYS
Phenotype: Extrapyramidal dyskinesia (HP:0007308)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Lethargy (HP:0001254)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Seizure (HP:0001250)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Uraciluria (HP:0012127)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Anal atresia (HP:0002023)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated urinary dihydrouracil level (HP:6000118)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated urinary dihydrothymine level (HP:6000119)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated circulating uracil concentration (HP:0033139)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated CSF dihydrouracil concentration (HP:6000211)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated circulating dihydrouracil concentration (HP:0034593)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated urinary thymine level (HP:6000331)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Reduced dihydropyrimidine dehydrogenase level (HP:0003654)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated circulating thymine concentration (HP:4000095)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Autism (HP:0000717)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Reduced hepatic dihydropyrimidinase activity (HP:6000083)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Microcephaly (HP:0000252)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Growth delay (HP:0001510)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: DPYS
Phenotype: Elevated circulating aldolase concentration (HP:0012544)
Associated disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Gene: SLC26A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Elevated stool chloride content (HP:0034470)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Metabolic alkalosis (HP:0200114)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Elevated serum bicarbonate concentration (HP:0032067)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Alkalosis (HP:0001948)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Dehydration (HP:0001944)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Hypochloremia (HP:0003113)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Increased circulating renin concentration (HP:0000848)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Hyperactive renin-angiotensin system (HP:0000841)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Abdominal distention (HP:0003270)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Growth abnormality (HP:0001507)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Growth delay (HP:0001510)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Secretory diarrhea (HP:0005208)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Hyponatremia (HP:0002902)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Hypokalemia (HP:0002900)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: SLC26A3
Phenotype: Premature birth (HP:0001622)
Associated disease: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (OMIM:214700)
Gene: DRD2
Phenotype: Panic attack (HP:0025269)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD2
Phenotype: Personality disorder (HP:0012075)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD2
Phenotype: Dystonia (HP:0001332)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD2
Phenotype: Myoclonus (HP:0001336)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD2
Phenotype: Spinal myoclonus (HP:0010531)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD2
Phenotype: Writer's cramp (HP:0002356)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD2
Phenotype: Anxiety (HP:0000739)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD2
Phenotype: Depression (HP:0000716)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD2
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD2
Phenotype: Torticollis (HP:0000473)
Associated disease: Alcohol-responsive dystonia; Myoclonic dystonia; Hereditary essential myoclonus; Myoclonus-dystonia syndrome (ORPHA:36899)
Gene: DRD3
Phenotype: Dysarthria (HP:0001260)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 1 (OMIM:190300)
Gene: DRD3
Phenotype: Negativism (HP:0410291)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DRD3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 1 (OMIM:190300)
Gene: DRD3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DRD3
Phenotype: Postural tremor (HP:0002174)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 1 (OMIM:190300)
Gene: DRD3
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DRD3
Phenotype: Social and occupational deterioration (HP:0007086)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DRD3
Phenotype: Hand tremor (HP:0002378)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 1 (OMIM:190300)
Gene: DRD3
Phenotype: Action tremor (HP:0002345)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 1 (OMIM:190300)
Gene: DRD3
Phenotype: Progressive (HP:0003676)
Associated disease: TREMOR, HEREDITARY ESSENTIAL, 1 (OMIM:190300)
Gene: DRD3
Phenotype: EEG abnormality (HP:0002353)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DRD3
Phenotype: Hallucinations (HP:0000738)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DRD3
Phenotype: Delusion (HP:0000746)
Associated disease: SCHIZOPHRENIA (OMIM:181500)
Gene: DRD4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:143465)
Gene: DRD4
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:143465)
Gene: DRD4
Phenotype: Hyperactivity (HP:0000752)
Associated disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:143465)
Gene: DRD5
Phenotype: Sporadic (HP:0003745)
Associated disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO (OMIM:606798)
Gene: DRD5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO (OMIM:606798)
Gene: DRD5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:143465)
Gene: DRD5
Phenotype: Middle age onset (HP:0003596)
Associated disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO (OMIM:606798)
Gene: DRD5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:143465)
Gene: DRD5
Phenotype: Blepharospasm (HP:0000643)
Associated disease: BLEPHAROSPASM, BENIGN ESSENTIAL, SUSCEPTIBILITY TO (OMIM:606798)
Gene: DRD5
Phenotype: Hyperactivity (HP:0000752)
Associated disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:143465)
Gene: ATN1
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Dyssynergia (HP:0010867)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Genetic anticipation (HP:0003743)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Seizure (HP:0001250)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Seizure (HP:0001250)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Ataxia (HP:0001251)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Ataxia (HP:0001251)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Inability to walk (HP:0002540)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Typically de novo (HP:0025352)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Dystonia (HP:0001332)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Absent speech (HP:0001344)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Myoclonus (HP:0001336)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Myoclonus (HP:0001336)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Dysmetria (HP:0001310)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Open mouth (HP:0000194)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Cleft palate (HP:0000175)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Constipation (HP:0002019)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Dysphagia (HP:0002015)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Chorea (HP:0002072)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Postural instability (HP:0002172)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Overhanging nasal tip (HP:0011833)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Middle age onset (HP:0003596)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Late onset (HP:0003584)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Atrophy of the dentate nucleus (HP:0007047)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Gene: ATN1
Phenotype: Aplasia of the falx cerebri (HP:0010654)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Action tremor (HP:0002345)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Memory impairment (HP:0002354)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Nonprogressive (HP:0003680)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: DRPLA; Naito-Oyanagi disease; Dentatorubral pallidoluysian atrophy; Dentatorubropallidoluysian atrophy (ORPHA:101)
Gene: ATN1
Phenotype: Low hanging columella (HP:0009765)
Associated disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Gene: ATN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)