Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Abnormality of movement (HP:0100022)help
..Starting node
..expand
Dyskinesia (HP:0100660)help
Term ID: 100660
Name: Dyskinesia
Synonym: Disorder of involuntary muscle movements; Dyskinesias; Dyskinesis
Definition: A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Comments:
Reference: HP:0100660
Genes and Diseases:
 
       Child Nodes:
........expandOrofacial dyskinesia (HP:0002310) help
........expandExtrapyramidal dyskinesia (HP:0007308) help
........expandTardive dyskinesia (HP:0040141) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMuscle fibrillation (HP:0010546) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100660HP:0100660Dyskinesia0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1480236600293
HP:0100660HP:0100660Dyskinesia0AGA CL E G H17593ORPHA1413318613228
HP:0100660HP:0100660Dyskinesia0AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1437567602166
HP:0100660HP:0100660Dyskinesia0ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0100660HP:0100660Dyskinesia0ATP13A2 CL E G H23400306674ORPHA173830213610513
HP:0100660HP:0100660Dyskinesia0ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0100660HP:0100660Dyskinesia0B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0100660HP:0100660Dyskinesia0CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM110119347610648
HP:0100660HP:0100660Dyskinesia0DDX3X CL E G H1654457260ORPHA16022745300160
HP:0100660HP:0100660Dyskinesia0DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0100660HP:0100660Dyskinesia0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0100660HP:0100660Dyskinesia0FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11513999134790
HP:0100660HP:0100660Dyskinesia0GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0100660HP:0100660Dyskinesia0GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM17324083137192
HP:0100660HP:0100660Dyskinesia0GCDH CL E G H263925ORPHA16004189608801
HP:0100660HP:0100660Dyskinesia0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM13584389139311
HP:0100660HP:0100660Dyskinesia0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0100660HP:0100660Dyskinesia0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM111244586138252
HP:0100660HP:0100660Dyskinesia0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0100660HP:0100660Dyskinesia0INPP5K CL E G H51763559ORPHA115733882607875
HP:0100660HP:0100660Dyskinesia0KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA14766218176260
HP:0100660HP:0100660Dyskinesia0KCNMA1 CL E G H3778609446Generalized epilepsy and paroxysmal dyskinesia609446C1836173OMIM18686284600150
HP:0100660HP:0100660Dyskinesia0KCNQ2 CL E G H3785306ORPHA116896296602235
HP:0100660HP:0100660Dyskinesia0KCNQ3 CL E G H3786306ORPHA110826297602232
HP:0100660HP:0100660Dyskinesia0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM18519691608205
HP:0100660HP:0100660Dyskinesia0NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM12117194609435
HP:0100660HP:0100660Dyskinesia0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0100660HP:0100660Dyskinesia0NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1987715602141
HP:0100660HP:0100660Dyskinesia0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11618772610652
HP:0100660HP:0100660Dyskinesia0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11058800190040
HP:0100660HP:0100660Dyskinesia0PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM152623166610316
HP:0100660HP:0100660Dyskinesia0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11639438603424
HP:0100660HP:0100660Dyskinesia0PRRT2 CL E G H112476306ORPHA170230500614386
HP:0100660HP:0100660Dyskinesia0PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA170230500614386
HP:0100660HP:0100660Dyskinesia0RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM130716499300774
HP:0100660HP:0100660Dyskinesia0SCN2A CL E G H6326306ORPHA1191410588182390
HP:0100660HP:0100660Dyskinesia0SCN8A CL E G H6334306ORPHA1149410596600702
HP:0100660HP:0100660Dyskinesia0SIL1 CL E G H64374559ORPHA122924624608005
HP:0100660HP:0100660Dyskinesia0SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM182711005138140
HP:0100660HP:0100660Dyskinesia0SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM182711005138140
HP:0100660HP:0100660Dyskinesia0SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1301329604604
HP:0100660HP:0100660Dyskinesia0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM126530521611672
HP:0100660HP:0100660Dyskinesia0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0100660HP:0100660Dyskinesia0ST3GAL5 CL E G H8869370938ORPHA130910872604402
HP:0100660HP:0100660Dyskinesia0SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM15011509185605
HP:0100660HP:0100660Dyskinesia0TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM174028472612048
HP:0100660HP:0100660Dyskinesia0XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM118812811314850
HP:0100660HP:0002310Orofacial dyskinesia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1480236600293
HP:0100660HP:0007308Extrapyramidal dyskinesia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1480236600293
HP:0100660HP:0040141Tardive dyskinesia1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1480236600293
HP:0100660HP:0002310Orofacial dyskinesia1AGA CL E G H17593ORPHA1413318613228
HP:0100660HP:0007308Extrapyramidal dyskinesia1AGA CL E G H17593ORPHA1413318613228
HP:0100660HP:0040141Tardive dyskinesia1AGA CL E G H17593ORPHA1413318613228
HP:0100660HP:0002310Orofacial dyskinesia1AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1437567602166
HP:0100660HP:0007308Extrapyramidal dyskinesia1AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1437567602166
HP:0100660HP:0040141Tardive dyskinesia1AP3B2 CL E G H8120617276Epileptic encephalopathy, early infantile, 48617276C4310637OMIM1437567602166
HP:0100660HP:0002310Orofacial dyskinesia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0100660HP:0007308Extrapyramidal dyskinesia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0100660HP:0040141Tardive dyskinesia1ARX CL E G H170302308350Epileptic encephalopathy, early infantile, 1308350C3463992OMIM167918060300382
HP:0100660HP:0002310Orofacial dyskinesia1ATP13A2 CL E G H23400306674ORPHA173830213610513
HP:0100660HP:0007308Extrapyramidal dyskinesia1ATP13A2 CL E G H23400306674ORPHA173830213610513
HP:0100660HP:0040141Tardive dyskinesia1ATP13A2 CL E G H23400306674ORPHA173830213610513
HP:0100660HP:0002310Orofacial dyskinesia1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0100660HP:0007308Extrapyramidal dyskinesia1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0100660HP:0040141Tardive dyskinesia1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0100660HP:0002310Orofacial dyskinesia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0100660HP:0007308Extrapyramidal dyskinesia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0100660HP:0040141Tardive dyskinesia1B4GALNT1 CL E G H2583609195Spastic paraplegia 26609195C1836632OMIM11924117601873
HP:0100660HP:0002310Orofacial dyskinesia1CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM110119347610648
HP:0100660HP:0007308Extrapyramidal dyskinesia1CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM110119347610648
HP:0100660HP:0040141Tardive dyskinesia1CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM110119347610648
HP:0100660HP:0002310Orofacial dyskinesia1DDX3X CL E G H1654457260ORPHA16022745300160
HP:0100660HP:0007308Extrapyramidal dyskinesia1DDX3X CL E G H1654457260ORPHA16022745300160
HP:0100660HP:0040141Tardive dyskinesia1DDX3X CL E G H1654457260ORPHA16022745300160
HP:0100660HP:0002310Orofacial dyskinesia1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0100660HP:0007308Extrapyramidal dyskinesia1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0100660HP:0040141Tardive dyskinesia1DEAF1 CL E G H10522617171Dyskinesia, seizures, and intellectual developmental disorder617171C4310683OMIM145214677602635
HP:0100660HP:0002310Orofacial dyskinesia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0100660HP:0007308Extrapyramidal dyskinesia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0100660HP:0040141Tardive dyskinesia1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM16143811164874
HP:0100660HP:0002310Orofacial dyskinesia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11513999134790
HP:0100660HP:0007308Extrapyramidal dyskinesia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11513999134790
HP:0100660HP:0040141Tardive dyskinesia1FTL CL E G H2512606159Neuroferritinopathy606159C1853578OMIM11513999134790
HP:0100660HP:0002310Orofacial dyskinesia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0100660HP:0007308Extrapyramidal dyskinesia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0100660HP:0040141Tardive dyskinesia1GABRB2 CL E G H2561617829EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2617829CN757794OMIM14214082600232
HP:0100660HP:0002310Orofacial dyskinesia1GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM17324083137192
HP:0100660HP:0007308Extrapyramidal dyskinesia1GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM17324083137192
HP:0100660HP:0040141Tardive dyskinesia1GABRB3 CL E G H2562617113Epileptic encephalopathy, early infantile, 43617113C4310712OMIM17324083137192
HP:0100660HP:0002310Orofacial dyskinesia1GCDH CL E G H263925ORPHA16004189608801
HP:0100660HP:0007308Extrapyramidal dyskinesia1GCDH CL E G H263925ORPHA16004189608801
HP:0100660HP:0040141Tardive dyskinesia1GCDH CL E G H263925ORPHA16004189608801
HP:0100660HP:0002310Orofacial dyskinesia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM13584389139311
HP:0100660HP:0007308Extrapyramidal dyskinesia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM13584389139311
HP:0100660HP:0040141Tardive dyskinesia1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM13584389139311
HP:0100660HP:0002310Orofacial dyskinesia1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0100660HP:0007308Extrapyramidal dyskinesia1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0100660HP:0040141Tardive dyskinesia1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM17354584138249
HP:0100660HP:0002310Orofacial dyskinesia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM111244586138252
HP:0100660HP:0007308Extrapyramidal dyskinesia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM111244586138252
HP:0100660HP:0040141Tardive dyskinesia1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM111244586138252
HP:0100660HP:0002310Orofacial dyskinesia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0100660HP:0007308Extrapyramidal dyskinesia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0100660HP:0040141Tardive dyskinesia1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM111244586138252
HP:0100660HP:0002310Orofacial dyskinesia1INPP5K CL E G H51763559ORPHA115733882607875
HP:0100660HP:0007308Extrapyramidal dyskinesia1INPP5K CL E G H51763559ORPHA115733882607875
HP:0100660HP:0040141Tardive dyskinesia1INPP5K CL E G H51763559ORPHA115733882607875
HP:0100660HP:0002310Orofacial dyskinesia1KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA14766218176260
HP:0100660HP:0007308Extrapyramidal dyskinesia1KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA14766218176260
HP:0100660HP:0040141Tardive dyskinesia1KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA14766218176260
HP:0100660HP:0002310Orofacial dyskinesia1KCNMA1 CL E G H3778609446Generalized epilepsy and paroxysmal dyskinesia609446C1836173OMIM18686284600150
HP:0100660HP:0007308Extrapyramidal dyskinesia1KCNMA1 CL E G H3778609446Generalized epilepsy and paroxysmal dyskinesia609446C1836173OMIM18686284600150
HP:0100660HP:0040141Tardive dyskinesia1KCNMA1 CL E G H3778609446Generalized epilepsy and paroxysmal dyskinesia609446C1836173OMIM18686284600150
HP:0100660HP:0002310Orofacial dyskinesia1KCNQ2 CL E G H3785306ORPHA116896296602235
HP:0100660HP:0007308Extrapyramidal dyskinesia1KCNQ2 CL E G H3785306ORPHA116896296602235
HP:0100660HP:0040141Tardive dyskinesia1KCNQ2 CL E G H3785306ORPHA116896296602235
HP:0100660HP:0002310Orofacial dyskinesia1KCNQ3 CL E G H3786306ORPHA110826297602232
HP:0100660HP:0007308Extrapyramidal dyskinesia1KCNQ3 CL E G H3786306ORPHA110826297602232
HP:0100660HP:0040141Tardive dyskinesia1KCNQ3 CL E G H3786306ORPHA110826297602232
HP:0100660HP:0002310Orofacial dyskinesia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM18519691608205
HP:0100660HP:0007308Extrapyramidal dyskinesia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM18519691608205
HP:0100660HP:0040141Tardive dyskinesia1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM18519691608205
HP:0100660HP:0002310Orofacial dyskinesia1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM12117194609435
HP:0100660HP:0007308Extrapyramidal dyskinesia1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM12117194609435
HP:0100660HP:0040141Tardive dyskinesia1NDUFA13 CL E G H51079618249MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28618249OMIM12117194609435
HP:0100660HP:0002310Orofacial dyskinesia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0100660HP:0007308Extrapyramidal dyskinesia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0100660HP:0040141Tardive dyskinesia1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0100660HP:0002310Orofacial dyskinesia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1987715602141
HP:0100660HP:0007308Extrapyramidal dyskinesia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1987715602141
HP:0100660HP:0040141Tardive dyskinesia1NDUFS8 CL E G H4728618222MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2618222OMIM1987715602141
HP:0100660HP:0002310Orofacial dyskinesia1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11618772610652
HP:0100660HP:0007308Extrapyramidal dyskinesia1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11618772610652
HP:0100660HP:0040141Tardive dyskinesia1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11618772610652
HP:0100660HP:0002310Orofacial dyskinesia1PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11058800190040
HP:0100660HP:0007308Extrapyramidal dyskinesia1PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11058800190040
HP:0100660HP:0040141Tardive dyskinesia1PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM11058800190040
HP:0100660HP:0002310Orofacial dyskinesia1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM152623166610316
HP:0100660HP:0007308Extrapyramidal dyskinesia1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM152623166610316
HP:0100660HP:0040141Tardive dyskinesia1PNPT1 CL E G H87178614932Combined oxidative phosphorylation deficiency 13614932C3554129OMIM152623166610316
HP:0100660HP:0002310Orofacial dyskinesia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11639438603424
HP:0100660HP:0007308Extrapyramidal dyskinesia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11639438603424
HP:0100660HP:0040141Tardive dyskinesia1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM11639438603424
HP:0100660HP:0002310Orofacial dyskinesia1PRRT2 CL E G H112476306ORPHA170230500614386
HP:0100660HP:0007308Extrapyramidal dyskinesia1PRRT2 CL E G H112476306ORPHA170230500614386
HP:0100660HP:0040141Tardive dyskinesia1PRRT2 CL E G H112476306ORPHA170230500614386
HP:0100660HP:0002310Orofacial dyskinesia1PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA170230500614386
HP:0100660HP:0007308Extrapyramidal dyskinesia1PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA170230500614386
HP:0100660HP:0040141Tardive dyskinesia1PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA170230500614386
HP:0100660HP:0002310Orofacial dyskinesia1RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM130716499300774
HP:0100660HP:0007308Extrapyramidal dyskinesia1RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM130716499300774
HP:0100660HP:0040141Tardive dyskinesia1RAB39B CL E G H116442311510Parkinsonism, early onset with mental retardation311510C0796195OMIM130716499300774
HP:0100660HP:0002310Orofacial dyskinesia1SCN2A CL E G H6326306ORPHA1191410588182390
HP:0100660HP:0007308Extrapyramidal dyskinesia1SCN2A CL E G H6326306ORPHA1191410588182390
HP:0100660HP:0040141Tardive dyskinesia1SCN2A CL E G H6326306ORPHA1191410588182390
HP:0100660HP:0002310Orofacial dyskinesia1SCN8A CL E G H6334306ORPHA1149410596600702
HP:0100660HP:0007308Extrapyramidal dyskinesia1SCN8A CL E G H6334306ORPHA1149410596600702
HP:0100660HP:0040141Tardive dyskinesia1SCN8A CL E G H6334306ORPHA1149410596600702
HP:0100660HP:0002310Orofacial dyskinesia1SIL1 CL E G H64374559ORPHA122924624608005
HP:0100660HP:0007308Extrapyramidal dyskinesia1SIL1 CL E G H64374559ORPHA122924624608005
HP:0100660HP:0040141Tardive dyskinesia1SIL1 CL E G H64374559ORPHA122924624608005
HP:0100660HP:0002310Orofacial dyskinesia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM182711005138140
HP:0100660HP:0007308Extrapyramidal dyskinesia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM182711005138140
HP:0100660HP:0040141Tardive dyskinesia1SLC2A1 CL E G H6513601042Dystonia 9601042C1832855OMIM182711005138140
HP:0100660HP:0002310Orofacial dyskinesia1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM182711005138140
HP:0100660HP:0007308Extrapyramidal dyskinesia1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM182711005138140
HP:0100660HP:0040141Tardive dyskinesia1SLC2A1 CL E G H6513612126GLUT1 deficiency syndrome 2612126C1842534OMIM182711005138140
HP:0100660HP:0002310Orofacial dyskinesia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1301329604604
HP:0100660HP:0007308Extrapyramidal dyskinesia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1301329604604
HP:0100660HP:0040141Tardive dyskinesia1SLC30A9 CL E G H10463617595Birk-Landau-Perez syndrome617595C4539828OMIM1301329604604
HP:0100660HP:0002310Orofacial dyskinesia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM126530521611672
HP:0100660HP:0007308Extrapyramidal dyskinesia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM126530521611672
HP:0100660HP:0040141Tardive dyskinesia1SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM126530521611672
HP:0100660HP:0002310Orofacial dyskinesia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0100660HP:0007308Extrapyramidal dyskinesia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0100660HP:0040141Tardive dyskinesia1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0100660HP:0002310Orofacial dyskinesia1ST3GAL5 CL E G H8869370938ORPHA130910872604402
HP:0100660HP:0007308Extrapyramidal dyskinesia1ST3GAL5 CL E G H8869370938ORPHA130910872604402
HP:0100660HP:0040141Tardive dyskinesia1ST3GAL5 CL E G H8869370938ORPHA130910872604402
HP:0100660HP:0002310Orofacial dyskinesia1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM15011509185605
HP:0100660HP:0007308Extrapyramidal dyskinesia1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM15011509185605
HP:0100660HP:0040141Tardive dyskinesia1SYT1 CL E G H6857618218BAKER-GORDON SYNDROME618218OMIM15011509185605
HP:0100660HP:0002310Orofacial dyskinesia1TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM174028472612048
HP:0100660HP:0007308Extrapyramidal dyskinesia1TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM174028472612048
HP:0100660HP:0040141Tardive dyskinesia1TMEM43 CL E G H79188604400Arrhythmogenic right ventricular cardiomyopathy, type 5604400C1858379OMIM174028472612048
HP:0100660HP:0002310Orofacial dyskinesia1XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM118812811314850
HP:0100660HP:0007308Extrapyramidal dyskinesia1XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM118812811314850
HP:0100660HP:0040141Tardive dyskinesia1XK CL E G H7504300842McLeod neuroacanthocytosis syndrome300842C0398568OMIM118812811314850
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100660HP:0100660Dyskinesia0AARS CL E G H16442835ORPHA020601065
HP:0100660HP:0100660Dyskinesia0AP3B2 CL E G H8120442835ORPHA0437567602166
HP:0100660HP:0100660Dyskinesia0ARV1 CL E G H64801442835ORPHA07129561611647
HP:0100660HP:0100660Dyskinesia0ATP6V1A CL E G H523442835ORPHA0123851607027
HP:0100660HP:0100660Dyskinesia0B4GALNT1 CL E G H2583101006ORPHA01924117601873
HP:0100660HP:0100660Dyskinesia0CACNA1A CL E G H773442835ORPHA026891388601011
HP:0100660HP:0100660Dyskinesia0CLTC CL E G H1213442835ORPHA03902092118955
HP:0100660HP:0100660Dyskinesia0CNKSR2 CL E G H22866442835ORPHA026419701300724
HP:0100660HP:0100660Dyskinesia0CYFIP2 CL E G H26999442835ORPHA041613760606323
HP:0100660HP:0100660Dyskinesia0DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM06022745300160
HP:0100660HP:0100660Dyskinesia0DHDDS CL E G H79947442835ORPHA031820603608172
HP:0100660HP:0100660Dyskinesia0DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0100660HP:0100660Dyskinesia0DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0100660HP:0100660Dyskinesia0DNM1 CL E G H1759442835ORPHA06222972602377
HP:0100660HP:0100660Dyskinesia0EEF1A2 CL E G H1917442835ORPHA04933192602959
HP:0100660HP:0100660Dyskinesia0EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0100660HP:0100660Dyskinesia0EPCAM CL E G H4072144ORPHA061311529185535
HP:0100660HP:0100660Dyskinesia0FAN1 CL E G H22909144ORPHA036029170613534
HP:0100660HP:0100660Dyskinesia0FGF12 CL E G H2257442835ORPHA02103668601513
HP:0100660HP:0100660Dyskinesia0GABRB2 CL E G H2561442835ORPHA04214082600232
HP:0100660HP:0100660Dyskinesia0GBA CL E G H2629411602ORPHA04177606463
HP:0100660HP:0100660Dyskinesia0GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0100660HP:0100660Dyskinesia0GNAS CL E G H277894089ORPHA04454392139320
HP:0100660HP:0100660Dyskinesia0GRIN2D CL E G H2906442835ORPHA05194588602717
HP:0100660HP:0100660Dyskinesia0HCN1 CL E G H348980442835ORPHA06354845602780
HP:0100660HP:0100660Dyskinesia0KCNA2 CL E G H3737442835ORPHA03256220176262
HP:0100660HP:0100660Dyskinesia0KCNB1 CL E G H3745442835ORPHA05186231600397
HP:0100660HP:0100660Dyskinesia0KRAS CL E G H3845144ORPHA04406407190070
HP:0100660HP:0100660Dyskinesia0LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0100660HP:0100660Dyskinesia0MLH1 CL E G H4292144ORPHA048267127120436
HP:0100660HP:0100660Dyskinesia0MLH3 CL E G H27030144ORPHA018247128604395
HP:0100660HP:0100660Dyskinesia0MSH2 CL E G H4436144ORPHA063747325609309
HP:0100660HP:0100660Dyskinesia0MSH6 CL E G H2956144ORPHA077067329600678
HP:0100660HP:0100660Dyskinesia0NECAP1 CL E G H25977442835ORPHA016724539611623
HP:0100660HP:0100660Dyskinesia0NTRK2 CL E G H4915442835ORPHA03338032600456
HP:0100660HP:0100660Dyskinesia0NUS1 CL E G H116150442835ORPHA022021042610463
HP:0100660HP:0100660Dyskinesia0PIK3CA CL E G H5290144ORPHA09758975171834
HP:0100660HP:0100660Dyskinesia0PMS1 CL E G H5378144ORPHA0969121600258
HP:0100660HP:0100660Dyskinesia0PMS2 CL E G H5395144ORPHA043469122600259
HP:0100660HP:0100660Dyskinesia0PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA04269153609023
HP:0100660HP:0100660Dyskinesia0PPP3CA CL E G H5530442835ORPHA02339314114105
HP:0100660HP:0100660Dyskinesia0PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA070230500614386
HP:0100660HP:0100660Dyskinesia0SCN3A CL E G H6328442835ORPHA0109610590182391
HP:0100660HP:0100660Dyskinesia0SCN8A CL E G H6334442835ORPHA0149410596600702
HP:0100660HP:0100660Dyskinesia0SLC13A5 CL E G H284111442835ORPHA056823089608305
HP:0100660HP:0100660Dyskinesia0SLC1A2 CL E G H6506442835ORPHA023610940600300
HP:0100660HP:0100660Dyskinesia0SNCA CL E G H6622411602ORPHA017711138163890
HP:0100660HP:0100660Dyskinesia0STX16 CL E G H867594089ORPHA018511431603666
HP:0100660HP:0100660Dyskinesia0STXBP1 CL E G H6812442835ORPHA087111444602926
HP:0100660HP:0100660Dyskinesia0SYNGAP1 CL E G H8831442835ORPHA0108611497603384
HP:0100660HP:0100660Dyskinesia0SYNJ1 CL E G H8867442835ORPHA0104611503604297
HP:0100660HP:0100660Dyskinesia0SZT2 CL E G H23334442835ORPHA0234229040615463
HP:0100660HP:0100660Dyskinesia0TGFBR2 CL E G H7048144ORPHA084211773190182
HP:0100660HP:0100660Dyskinesia0TRAK1 CL E G H22906442835ORPHA010629947608112
HP:0100660HP:0100660Dyskinesia0UBA5 CL E G H79876442835ORPHA015723230610552
HP:0100660HP:0100660Dyskinesia0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM0116626582612636
HP:0100660HP:0100660Dyskinesia0VPS35 CL E G H55737411602ORPHA018413487601501
HP:0100660HP:0100660Dyskinesia0WWOX CL E G H51741442835ORPHA096712799605131
HP:0100660HP:0100660Dyskinesia0YWHAG CL E G H7532442835ORPHA012812852605356
HP:0100660HP:0002310Orofacial dyskinesia1AARS CL E G H16442835ORPHA020601065
HP:0100660HP:0007308Extrapyramidal dyskinesia1AARS CL E G H16442835ORPHA020601065
HP:0100660HP:0040141Tardive dyskinesia1AARS CL E G H16442835ORPHA020601065
HP:0100660HP:0002310Orofacial dyskinesia1AP3B2 CL E G H8120442835ORPHA0437567602166
HP:0100660HP:0007308Extrapyramidal dyskinesia1AP3B2 CL E G H8120442835ORPHA0437567602166
HP:0100660HP:0040141Tardive dyskinesia1AP3B2 CL E G H8120442835ORPHA0437567602166
HP:0100660HP:0002310Orofacial dyskinesia1ARV1 CL E G H64801442835ORPHA07129561611647
HP:0100660HP:0007308Extrapyramidal dyskinesia1ARV1 CL E G H64801442835ORPHA07129561611647
HP:0100660HP:0040141Tardive dyskinesia1ARV1 CL E G H64801442835ORPHA07129561611647
HP:0100660HP:0002310Orofacial dyskinesia1ATP6V1A CL E G H523442835ORPHA0123851607027
HP:0100660HP:0007308Extrapyramidal dyskinesia1ATP6V1A CL E G H523442835ORPHA0123851607027
HP:0100660HP:0040141Tardive dyskinesia1ATP6V1A CL E G H523442835ORPHA0123851607027
HP:0100660HP:0002310Orofacial dyskinesia1B4GALNT1 CL E G H2583101006ORPHA01924117601873
HP:0100660HP:0007308Extrapyramidal dyskinesia1B4GALNT1 CL E G H2583101006ORPHA01924117601873
HP:0100660HP:0040141Tardive dyskinesia1B4GALNT1 CL E G H2583101006ORPHA01924117601873
HP:0100660HP:0002310Orofacial dyskinesia1CACNA1A CL E G H773442835ORPHA026891388601011
HP:0100660HP:0007308Extrapyramidal dyskinesia1CACNA1A CL E G H773442835ORPHA026891388601011
HP:0100660HP:0040141Tardive dyskinesia1CACNA1A CL E G H773442835ORPHA026891388601011
HP:0100660HP:0002310Orofacial dyskinesia1CLTC CL E G H1213442835ORPHA03902092118955
HP:0100660HP:0007308Extrapyramidal dyskinesia1CLTC CL E G H1213442835ORPHA03902092118955
HP:0100660HP:0040141Tardive dyskinesia1CLTC CL E G H1213442835ORPHA03902092118955
HP:0100660HP:0002310Orofacial dyskinesia1CNKSR2 CL E G H22866442835ORPHA026419701300724
HP:0100660HP:0007308Extrapyramidal dyskinesia1CNKSR2 CL E G H22866442835ORPHA026419701300724
HP:0100660HP:0040141Tardive dyskinesia1CNKSR2 CL E G H22866442835ORPHA026419701300724
HP:0100660HP:0002310Orofacial dyskinesia1CYFIP2 CL E G H26999442835ORPHA041613760606323
HP:0100660HP:0007308Extrapyramidal dyskinesia1CYFIP2 CL E G H26999442835ORPHA041613760606323
HP:0100660HP:0040141Tardive dyskinesia1CYFIP2 CL E G H26999442835ORPHA041613760606323
HP:0100660HP:0002310Orofacial dyskinesia1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM06022745300160
HP:0100660HP:0007308Extrapyramidal dyskinesia1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM06022745300160
HP:0100660HP:0040141Tardive dyskinesia1DDX3X CL E G H1654300958Mental retardation, X-linked 102300958C4085582OMIM06022745300160
HP:0100660HP:0002310Orofacial dyskinesia1DHDDS CL E G H79947442835ORPHA031820603608172
HP:0100660HP:0007308Extrapyramidal dyskinesia1DHDDS CL E G H79947442835ORPHA031820603608172
HP:0100660HP:0040141Tardive dyskinesia1DHDDS CL E G H79947442835ORPHA031820603608172
HP:0100660HP:0002310Orofacial dyskinesia1DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0100660HP:0007308Extrapyramidal dyskinesia1DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0100660HP:0040141Tardive dyskinesia1DNAJC13 CL E G H23317411602ORPHA016530343614334
HP:0100660HP:0002310Orofacial dyskinesia1DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0100660HP:0007308Extrapyramidal dyskinesia1DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0100660HP:0040141Tardive dyskinesia1DNAJC19 CL E G H13111866634ORPHA011130528608977
HP:0100660HP:0002310Orofacial dyskinesia1DNM1 CL E G H1759442835ORPHA06222972602377
HP:0100660HP:0007308Extrapyramidal dyskinesia1DNM1 CL E G H1759442835ORPHA06222972602377
HP:0100660HP:0040141Tardive dyskinesia1DNM1 CL E G H1759442835ORPHA06222972602377
HP:0100660HP:0002310Orofacial dyskinesia1EEF1A2 CL E G H1917442835ORPHA04933192602959
HP:0100660HP:0007308Extrapyramidal dyskinesia1EEF1A2 CL E G H1917442835ORPHA04933192602959
HP:0100660HP:0040141Tardive dyskinesia1EEF1A2 CL E G H1917442835ORPHA04933192602959
HP:0100660HP:0002310Orofacial dyskinesia1EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0100660HP:0007308Extrapyramidal dyskinesia1EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0100660HP:0040141Tardive dyskinesia1EIF4G1 CL E G H1981411602ORPHA0943296600495
HP:0100660HP:0002310Orofacial dyskinesia1EPCAM CL E G H4072144ORPHA061311529185535
HP:0100660HP:0007308Extrapyramidal dyskinesia1EPCAM CL E G H4072144ORPHA061311529185535
HP:0100660HP:0040141Tardive dyskinesia1EPCAM CL E G H4072144ORPHA061311529185535
HP:0100660HP:0002310Orofacial dyskinesia1FAN1 CL E G H22909144ORPHA036029170613534
HP:0100660HP:0007308Extrapyramidal dyskinesia1FAN1 CL E G H22909144ORPHA036029170613534
HP:0100660HP:0040141Tardive dyskinesia1FAN1 CL E G H22909144ORPHA036029170613534
HP:0100660HP:0002310Orofacial dyskinesia1FGF12 CL E G H2257442835ORPHA02103668601513
HP:0100660HP:0007308Extrapyramidal dyskinesia1FGF12 CL E G H2257442835ORPHA02103668601513
HP:0100660HP:0040141Tardive dyskinesia1FGF12 CL E G H2257442835ORPHA02103668601513
HP:0100660HP:0002310Orofacial dyskinesia1GABRB2 CL E G H2561442835ORPHA04214082600232
HP:0100660HP:0007308Extrapyramidal dyskinesia1GABRB2 CL E G H2561442835ORPHA04214082600232
HP:0100660HP:0040141Tardive dyskinesia1GABRB2 CL E G H2561442835ORPHA04214082600232
HP:0100660HP:0002310Orofacial dyskinesia1GBA CL E G H2629411602ORPHA04177606463
HP:0100660HP:0007308Extrapyramidal dyskinesia1GBA CL E G H2629411602ORPHA04177606463
HP:0100660HP:0040141Tardive dyskinesia1GBA CL E G H2629411602ORPHA04177606463
HP:0100660HP:0002310Orofacial dyskinesia1GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0100660HP:0007308Extrapyramidal dyskinesia1GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0100660HP:0040141Tardive dyskinesia1GIGYF2 CL E G H26058411602ORPHA025511960612003
HP:0100660HP:0002310Orofacial dyskinesia1GNAS CL E G H277894089ORPHA04454392139320
HP:0100660HP:0007308Extrapyramidal dyskinesia1GNAS CL E G H277894089ORPHA04454392139320
HP:0100660HP:0040141Tardive dyskinesia1GNAS CL E G H277894089ORPHA04454392139320
HP:0100660HP:0002310Orofacial dyskinesia1GRIN2D CL E G H2906442835ORPHA05194588602717
HP:0100660HP:0007308Extrapyramidal dyskinesia1GRIN2D CL E G H2906442835ORPHA05194588602717
HP:0100660HP:0040141Tardive dyskinesia1GRIN2D CL E G H2906442835ORPHA05194588602717
HP:0100660HP:0002310Orofacial dyskinesia1HCN1 CL E G H348980442835ORPHA06354845602780
HP:0100660HP:0007308Extrapyramidal dyskinesia1HCN1 CL E G H348980442835ORPHA06354845602780
HP:0100660HP:0040141Tardive dyskinesia1HCN1 CL E G H348980442835ORPHA06354845602780
HP:0100660HP:0002310Orofacial dyskinesia1KCNA2 CL E G H3737442835ORPHA03256220176262
HP:0100660HP:0007308Extrapyramidal dyskinesia1KCNA2 CL E G H3737442835ORPHA03256220176262
HP:0100660HP:0040141Tardive dyskinesia1KCNA2 CL E G H3737442835ORPHA03256220176262
HP:0100660HP:0002310Orofacial dyskinesia1KCNB1 CL E G H3745442835ORPHA05186231600397
HP:0100660HP:0007308Extrapyramidal dyskinesia1KCNB1 CL E G H3745442835ORPHA05186231600397
HP:0100660HP:0040141Tardive dyskinesia1KCNB1 CL E G H3745442835ORPHA05186231600397
HP:0100660HP:0002310Orofacial dyskinesia1KRAS CL E G H3845144ORPHA04406407190070
HP:0100660HP:0007308Extrapyramidal dyskinesia1KRAS CL E G H3845144ORPHA04406407190070
HP:0100660HP:0040141Tardive dyskinesia1KRAS CL E G H3845144ORPHA04406407190070
HP:0100660HP:0002310Orofacial dyskinesia1LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0100660HP:0007308Extrapyramidal dyskinesia1LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0100660HP:0040141Tardive dyskinesia1LRRK2 CL E G H120892411602ORPHA0222618618609007
HP:0100660HP:0002310Orofacial dyskinesia1MLH1 CL E G H4292144ORPHA048267127120436
HP:0100660HP:0007308Extrapyramidal dyskinesia1MLH1 CL E G H4292144ORPHA048267127120436
HP:0100660HP:0040141Tardive dyskinesia1MLH1 CL E G H4292144ORPHA048267127120436
HP:0100660HP:0002310Orofacial dyskinesia1MLH3 CL E G H27030144ORPHA018247128604395
HP:0100660HP:0007308Extrapyramidal dyskinesia1MLH3 CL E G H27030144ORPHA018247128604395
HP:0100660HP:0040141Tardive dyskinesia1MLH3 CL E G H27030144ORPHA018247128604395
HP:0100660HP:0002310Orofacial dyskinesia1MSH2 CL E G H4436144ORPHA063747325609309
HP:0100660HP:0007308Extrapyramidal dyskinesia1MSH2 CL E G H4436144ORPHA063747325609309
HP:0100660HP:0040141Tardive dyskinesia1MSH2 CL E G H4436144ORPHA063747325609309
HP:0100660HP:0002310Orofacial dyskinesia1MSH6 CL E G H2956144ORPHA077067329600678
HP:0100660HP:0007308Extrapyramidal dyskinesia1MSH6 CL E G H2956144ORPHA077067329600678
HP:0100660HP:0040141Tardive dyskinesia1MSH6 CL E G H2956144ORPHA077067329600678
HP:0100660HP:0002310Orofacial dyskinesia1NECAP1 CL E G H25977442835ORPHA016724539611623
HP:0100660HP:0007308Extrapyramidal dyskinesia1NECAP1 CL E G H25977442835ORPHA016724539611623
HP:0100660HP:0040141Tardive dyskinesia1NECAP1 CL E G H25977442835ORPHA016724539611623
HP:0100660HP:0002310Orofacial dyskinesia1NTRK2 CL E G H4915442835ORPHA03338032600456
HP:0100660HP:0007308Extrapyramidal dyskinesia1NTRK2 CL E G H4915442835ORPHA03338032600456
HP:0100660HP:0040141Tardive dyskinesia1NTRK2 CL E G H4915442835ORPHA03338032600456
HP:0100660HP:0002310Orofacial dyskinesia1NUS1 CL E G H116150442835ORPHA022021042610463
HP:0100660HP:0007308Extrapyramidal dyskinesia1NUS1 CL E G H116150442835ORPHA022021042610463
HP:0100660HP:0040141Tardive dyskinesia1NUS1 CL E G H116150442835ORPHA022021042610463
HP:0100660HP:0002310Orofacial dyskinesia1PIK3CA CL E G H5290144ORPHA09758975171834
HP:0100660HP:0007308Extrapyramidal dyskinesia1PIK3CA CL E G H5290144ORPHA09758975171834
HP:0100660HP:0040141Tardive dyskinesia1PIK3CA CL E G H5290144ORPHA09758975171834
HP:0100660HP:0002310Orofacial dyskinesia1PMS1 CL E G H5378144ORPHA0969121600258
HP:0100660HP:0007308Extrapyramidal dyskinesia1PMS1 CL E G H5378144ORPHA0969121600258
HP:0100660HP:0040141Tardive dyskinesia1PMS1 CL E G H5378144ORPHA0969121600258
HP:0100660HP:0002310Orofacial dyskinesia1PMS2 CL E G H5395144ORPHA043469122600259
HP:0100660HP:0007308Extrapyramidal dyskinesia1PMS2 CL E G H5395144ORPHA043469122600259
HP:0100660HP:0040141Tardive dyskinesia1PMS2 CL E G H5395144ORPHA043469122600259
HP:0100660HP:0002310Orofacial dyskinesia1PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA04269153609023
HP:0100660HP:0007308Extrapyramidal dyskinesia1PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA04269153609023
HP:0100660HP:0040141Tardive dyskinesia1PNKD CL E G H2595398810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA04269153609023
HP:0100660HP:0002310Orofacial dyskinesia1PPP3CA CL E G H5530442835ORPHA02339314114105
HP:0100660HP:0007308Extrapyramidal dyskinesia1PPP3CA CL E G H5530442835ORPHA02339314114105
HP:0100660HP:0040141Tardive dyskinesia1PPP3CA CL E G H5530442835ORPHA02339314114105
HP:0100660HP:0002310Orofacial dyskinesia1PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA070230500614386
HP:0100660HP:0007308Extrapyramidal dyskinesia1PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA070230500614386
HP:0100660HP:0040141Tardive dyskinesia1PRRT2 CL E G H11247698810Paroxysmal non-kinesigenic dyskinesiaC1869117ORPHA070230500614386
HP:0100660HP:0002310Orofacial dyskinesia1SCN3A CL E G H6328442835ORPHA0109610590182391
HP:0100660HP:0007308Extrapyramidal dyskinesia1SCN3A CL E G H6328442835ORPHA0109610590182391
HP:0100660HP:0040141Tardive dyskinesia1SCN3A CL E G H6328442835ORPHA0109610590182391
HP:0100660HP:0002310Orofacial dyskinesia1SCN8A CL E G H6334442835ORPHA0149410596600702
HP:0100660HP:0007308Extrapyramidal dyskinesia1SCN8A CL E G H6334442835ORPHA0149410596600702
HP:0100660HP:0040141Tardive dyskinesia1SCN8A CL E G H6334442835ORPHA0149410596600702
HP:0100660HP:0002310Orofacial dyskinesia1SLC13A5 CL E G H284111442835ORPHA056823089608305
HP:0100660HP:0007308Extrapyramidal dyskinesia1SLC13A5 CL E G H284111442835ORPHA056823089608305
HP:0100660HP:0040141Tardive dyskinesia1SLC13A5 CL E G H284111442835ORPHA056823089608305
HP:0100660HP:0002310Orofacial dyskinesia1SLC1A2 CL E G H6506442835ORPHA023610940600300
HP:0100660HP:0007308Extrapyramidal dyskinesia1SLC1A2 CL E G H6506442835ORPHA023610940600300
HP:0100660HP:0040141Tardive dyskinesia1SLC1A2 CL E G H6506442835ORPHA023610940600300
HP:0100660HP:0002310Orofacial dyskinesia1SNCA CL E G H6622411602ORPHA017711138163890
HP:0100660HP:0007308Extrapyramidal dyskinesia1SNCA CL E G H6622411602ORPHA017711138163890
HP:0100660HP:0040141Tardive dyskinesia1SNCA CL E G H6622411602ORPHA017711138163890
HP:0100660HP:0002310Orofacial dyskinesia1STX16 CL E G H867594089ORPHA018511431603666
HP:0100660HP:0007308Extrapyramidal dyskinesia1STX16 CL E G H867594089ORPHA018511431603666
HP:0100660HP:0040141Tardive dyskinesia1STX16 CL E G H867594089ORPHA018511431603666
HP:0100660HP:0002310Orofacial dyskinesia1STXBP1 CL E G H6812442835ORPHA087111444602926
HP:0100660HP:0007308Extrapyramidal dyskinesia1STXBP1 CL E G H6812442835ORPHA087111444602926
HP:0100660HP:0040141Tardive dyskinesia1STXBP1 CL E G H6812442835ORPHA087111444602926
HP:0100660HP:0002310Orofacial dyskinesia1SYNGAP1 CL E G H8831442835ORPHA0108611497603384
HP:0100660HP:0007308Extrapyramidal dyskinesia1SYNGAP1 CL E G H8831442835ORPHA0108611497603384
HP:0100660HP:0040141Tardive dyskinesia1SYNGAP1 CL E G H8831442835ORPHA0108611497603384
HP:0100660HP:0002310Orofacial dyskinesia1SYNJ1 CL E G H8867442835ORPHA0104611503604297
HP:0100660HP:0007308Extrapyramidal dyskinesia1SYNJ1 CL E G H8867442835ORPHA0104611503604297
HP:0100660HP:0040141Tardive dyskinesia1SYNJ1 CL E G H8867442835ORPHA0104611503604297
HP:0100660HP:0002310Orofacial dyskinesia1SZT2 CL E G H23334442835ORPHA0234229040615463
HP:0100660HP:0007308Extrapyramidal dyskinesia1SZT2 CL E G H23334442835ORPHA0234229040615463
HP:0100660HP:0040141Tardive dyskinesia1SZT2 CL E G H23334442835ORPHA0234229040615463
HP:0100660HP:0002310Orofacial dyskinesia1TGFBR2 CL E G H7048144ORPHA084211773190182
HP:0100660HP:0007308Extrapyramidal dyskinesia1TGFBR2 CL E G H7048144ORPHA084211773190182
HP:0100660HP:0040141Tardive dyskinesia1TGFBR2 CL E G H7048144ORPHA084211773190182
HP:0100660HP:0002310Orofacial dyskinesia1TRAK1 CL E G H22906442835ORPHA010629947608112
HP:0100660HP:0007308Extrapyramidal dyskinesia1TRAK1 CL E G H22906442835ORPHA010629947608112
HP:0100660HP:0040141Tardive dyskinesia1TRAK1 CL E G H22906442835ORPHA010629947608112
HP:0100660HP:0002310Orofacial dyskinesia1UBA5 CL E G H79876442835ORPHA015723230610552
HP:0100660HP:0007308Extrapyramidal dyskinesia1UBA5 CL E G H79876442835ORPHA015723230610552
HP:0100660HP:0040141Tardive dyskinesia1UBA5 CL E G H79876442835ORPHA015723230610552
HP:0100660HP:0002310Orofacial dyskinesia1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM0116626582612636
HP:0100660HP:0007308Extrapyramidal dyskinesia1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM0116626582612636
HP:0100660HP:0040141Tardive dyskinesia1UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM0116626582612636
HP:0100660HP:0002310Orofacial dyskinesia1VPS35 CL E G H55737411602ORPHA018413487601501
HP:0100660HP:0007308Extrapyramidal dyskinesia1VPS35 CL E G H55737411602ORPHA018413487601501
HP:0100660HP:0040141Tardive dyskinesia1VPS35 CL E G H55737411602ORPHA018413487601501
HP:0100660HP:0002310Orofacial dyskinesia1WWOX CL E G H51741442835ORPHA096712799605131
HP:0100660HP:0007308Extrapyramidal dyskinesia1WWOX CL E G H51741442835ORPHA096712799605131
HP:0100660HP:0040141Tardive dyskinesia1WWOX CL E G H51741442835ORPHA096712799605131
HP:0100660HP:0002310Orofacial dyskinesia1YWHAG CL E G H7532442835ORPHA012812852605356
HP:0100660HP:0007308Extrapyramidal dyskinesia1YWHAG CL E G H7532442835ORPHA012812852605356
HP:0100660HP:0040141Tardive dyskinesia1YWHAG CL E G H7532442835ORPHA012812852605356


Genes (111) :AARS ADCY5 AGA AP3B2 ARV1 ARX ATP13A2 ATP6V1A ATXN10 ATXN7 B4GALNT1 C9ORF72 CACNA1A CHMP2B CLTC CNKSR2 COQ2 CUX2 CYFIP2 DDX3X DEAF1 DHDDS DNAJC13 DNAJC19 DNM1 DPYS EEF1A2 EIF4G1 EPCAM FAN1 FGF12 FGF14 FOXG1 FTL GABRB2 GABRB3 GBA GCDH GIGYF2 GNAO1 GNAS GRIN1 GRIN2B GRIN2D HCN1 INPP5K KCNA1 KCNA2 KCNB1 KCNMA1 KCNQ2 KCNQ3 KRAS LRRK2 MECR MICU1 MLH1 MLH3 MRE11 MSH2 MSH6 NDUFA13 NDUFS4 NDUFS8 NECAP1 NTRK2 NUS1 PANK2 PDE10A PDGFB PIK3CA PMS1 PMS2 PNKD PNPT1 PPP3CA PRKRA PRRT2 RAB39B SCN2A SCN3A SCN8A SIL1 SLC13A5 SLC18A2 SLC1A2 SLC2A1 SLC30A9 SLC35A1 SLC46A1 SLC6A3 SNCA ST3GAL5 STX16 STXBP1 SYNGAP1 SYNJ1 SYT1 SZT2 TGFBR2 TMEM43 TRAK1 TSEN2 TSEN54 UBA5 UNC80 VPS13A VPS35 WWOX XK YWHAG

Diseases (76) :442835 606703 93 617276 308350 306674 98761 101006 609195 618141 457260 300958 617171 411602 66634 144 613454 606159 617829 617113 25 617493 94089 614254 616139 613970 559 98809 609446 306 617282 618249 252010 618222 616921 615483 98810 614932 612067 311510 601042 612126 617595 229050 613135 370938 618218 604400 616801 300842 324588 94147 164500 105550 600795 227510 98933 222748 609307 157846 401768 615673 251347 607236 234200 494526 210571 128200 352649 71277 603585 238455 612389 277470 2388 200150
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.