Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Chorea (HP:0002072)help
Term ID: 2072
Name: Chorea
Synonym: Choreatic disease; Choreic movements; Choreiform movements
Definition: Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Comments:
Reference: HP:0002072
Genes and Diseases:
 
       Child Nodes:
........expandChoreoathetosis (HP:0001266) help
................... HP:0007098 Paroxysmal choreoathetosis
................... HP:0007326 Progressive choreoathetosis

 Sister Nodes: 
..expandAthetosis (HP:0002305) help
..expandClonus (HP:0002169) help
..expandFasciculations (HP:0002380) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandMyoclonus (HP:0001336) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandStereotypy (HP:0000733) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002072HP:0002072Chorea0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0002072HP:0002072Chorea0ACAT2 CL E G H39614055Acetyl-CoA acetyltransferase-2 deficiency614055C0342735OMIM13294100678
HP:0002072HP:0002072Chorea0ADCY5 CL E G H111324588ORPHA1365236600293
HP:0002072HP:0002072Chorea0ADCY5 CL E G H111324588ORPHA1293236600293
HP:0002072HP:0002072Chorea0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0002072HP:0002072Chorea0ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0002072HP:0002072Chorea0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0002072HP:0002072Chorea0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0002072HP:0002072Chorea0ATXN1 CL E G H631098755ORPHA17810548601556
HP:0002072HP:0002072Chorea0ATXN1 CL E G H631098755ORPHA17610548601556
HP:0002072HP:0002072Chorea0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0002072HP:0002072Chorea0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0002072HP:0002072Chorea0ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002072HP:0002072Chorea0ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002072HP:0002072Chorea0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13910560607640
HP:0002072HP:0002072Chorea0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13710560607640
HP:0002072HP:0002072Chorea0C9orf72 CL E G H203228401901ORPHA116528337614260
HP:0002072HP:0002072Chorea0C9orf72 CL E G H203228401901ORPHA116128337614260
HP:0002072HP:0002072Chorea0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0002072HP:0002072Chorea0CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0002072HP:0002072Chorea0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11838740164010
HP:0002072HP:0002072Chorea0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11728740164010
HP:0002072HP:0002072Chorea0CP CL E G H135648818ORPHA15712295117700
HP:0002072HP:0002072Chorea0CP CL E G H135648818ORPHA14662295117700
HP:0002072HP:0002072Chorea0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0002072HP:0002072Chorea0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0002072HP:0002072Chorea0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0002072HP:0002072Chorea0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0002072HP:0002072Chorea0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM15343811164874
HP:0002072HP:0002072Chorea0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM14913811164874
HP:0002072HP:0002072Chorea0FTL CL E G H2512157846ORPHA11383999134790
HP:0002072HP:0002072Chorea0FTL CL E G H2512157846ORPHA11093999134790
HP:0002072HP:0002072Chorea0GM2A CL E G H2760309246ORPHA11534367613109
HP:0002072HP:0002072Chorea0GM2A CL E G H2760309246ORPHA11424367613109
HP:0002072HP:0002072Chorea0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11534367613109
HP:0002072HP:0002072Chorea0GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11424367613109
HP:0002072HP:0002072Chorea0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12854389139311
HP:0002072HP:0002072Chorea0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12554389139311
HP:0002072HP:0002072Chorea0GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1274539607468
HP:0002072HP:0002072Chorea0GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1184539607468
HP:0002072HP:0002072Chorea0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1514574138246
HP:0002072HP:0002072Chorea0GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1474574138246
HP:0002072HP:0002072Chorea0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0002072HP:0002072Chorea0GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0002072HP:0002072Chorea0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM19654586138252
HP:0002072HP:0002072Chorea0GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM18934586138252
HP:0002072HP:0002072Chorea0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM19654586138252
HP:0002072HP:0002072Chorea0GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM18934586138252
HP:0002072HP:0002072Chorea0HTT CL E G H3064248111ORPHA13934851613004
HP:0002072HP:0002072Chorea0HTT CL E G H3064248111ORPHA11454851613004
HP:0002072HP:0002072Chorea0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0002072HP:0002072Chorea0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0002072HP:0002072Chorea0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112314203605268
HP:0002072HP:0002072Chorea0JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112214203605268
HP:0002072HP:0002072Chorea0KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA14386218176260
HP:0002072HP:0002072Chorea0KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA13906218176260
HP:0002072HP:0002072Chorea0KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002072HP:0002072Chorea0KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002072HP:0002072Chorea0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM15486323602821
HP:0002072HP:0002072Chorea0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM13696323602821
HP:0002072HP:0002072Chorea0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116846990300005
HP:0002072HP:0002072Chorea0MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116036990300005
HP:0002072HP:0002072Chorea0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM17319691608205
HP:0002072HP:0002072Chorea0MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM16019691608205
HP:0002072HP:0002072Chorea0MICU1 CL E G H10367401768ORPHA11351530605084
HP:0002072HP:0002072Chorea0MICU1 CL E G H10367401768ORPHA11011530605084
HP:0002072HP:0002072Chorea0MRE11 CL E G H4361251347ORPHA112597230600814
HP:0002072HP:0002072Chorea0MRE11 CL E G H4361251347ORPHA112587230600814
HP:0002072HP:0002072Chorea0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0002072HP:0002072Chorea0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0002072HP:0002072Chorea0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM148517646610661
HP:0002072HP:0002072Chorea0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM138117646610661
HP:0002072HP:0002072Chorea0NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM119411825600635
HP:0002072HP:0002072Chorea0NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM117011825600635
HP:0002072HP:0002072Chorea0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14018142606580
HP:0002072HP:0002072Chorea0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM13728142606580
HP:0002072HP:0002072Chorea0PDE10A CL E G H10846494541ORPHA11138772610652
HP:0002072HP:0002072Chorea0PDE10A CL E G H10846494526ORPHA11138772610652
HP:0002072HP:0002072Chorea0PDE10A CL E G H10846494541ORPHA1898772610652
HP:0002072HP:0002072Chorea0PDE10A CL E G H10846494526ORPHA1898772610652
HP:0002072HP:0002072Chorea0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11138772610652
HP:0002072HP:0002072Chorea0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM1898772610652
HP:0002072HP:0002072Chorea0PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM11138772610652
HP:0002072HP:0002072Chorea0PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM1898772610652
HP:0002072HP:0002072Chorea0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1958800190040
HP:0002072HP:0002072Chorea0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1938800190040
HP:0002072HP:0002072Chorea0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1958800190040
HP:0002072HP:0002072Chorea0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1938800190040
HP:0002072HP:0002072Chorea0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13048804173410
HP:0002072HP:0002072Chorea0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM12838804173410
HP:0002072HP:0002072Chorea0PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1419006602669
HP:0002072HP:0002072Chorea0PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1399006602669
HP:0002072HP:0002072Chorea0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0002072HP:0002072Chorea0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0002072HP:0002072Chorea0PRNP CL E G H5621157941ORPHA11469449176640
HP:0002072HP:0002072Chorea0PRNP CL E G H5621157941ORPHA11319449176640
HP:0002072HP:0002072Chorea0PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11469449176640
HP:0002072HP:0002072Chorea0PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11319449176640
HP:0002072HP:0002072Chorea0PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA165930500614386
HP:0002072HP:0002072Chorea0PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA159730500614386
HP:0002072HP:0002072Chorea0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18814957607204
HP:0002072HP:0002072Chorea0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18614957607204
HP:0002072HP:0002072Chorea0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM123718756607352
HP:0002072HP:0002072Chorea0RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM113718756607352
HP:0002072HP:0002072Chorea0SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM132930605613009
HP:0002072HP:0002072Chorea0SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM129230605613009
HP:0002072HP:0002072Chorea0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM124810947158378
HP:0002072HP:0002072Chorea0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM122010947158378
HP:0002072HP:0002072Chorea0SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0002072HP:0002072Chorea0SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0002072HP:0002072Chorea0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM143911049126455
HP:0002072HP:0002072Chorea0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM138311049126455
HP:0002072HP:0002072Chorea0SLC6A8 CL E G H653552503ORPHA177011055300036
HP:0002072HP:0002072Chorea0SLC6A8 CL E G H653552503ORPHA171611055300036
HP:0002072HP:0002072Chorea0TAF1 CL E G H687253351ORPHA132111535313650
HP:0002072HP:0002072Chorea0TAF1 CL E G H687253351ORPHA130211535313650
HP:0002072HP:0002072Chorea0TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM132111535313650
HP:0002072HP:0002072Chorea0TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM130211535313650
HP:0002072HP:0002072Chorea0TBP CL E G H690898759ORPHA110611588600075
HP:0002072HP:0002072Chorea0TBP CL E G H690898759ORPHA110211588600075
HP:0002072HP:0002072Chorea0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110611588600075
HP:0002072HP:0002072Chorea0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110211588600075
HP:0002072HP:0002072Chorea0TRAPPC11 CL E G H60684369847ORPHA167325751614138
HP:0002072HP:0002072Chorea0TRAPPC11 CL E G H60684369847ORPHA157325751614138
HP:0002072HP:0002072Chorea0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002072HP:0002072Chorea0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002072HP:0002072Chorea0TREM2 CL E G H542092770ORPHA19417761605086
HP:0002072HP:0002072Chorea0TREM2 CL E G H542092770ORPHA16417761605086
HP:0002072HP:0002072Chorea0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM122828422608753
HP:0002072HP:0002072Chorea0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM120828422608753
HP:0002072HP:0002072Chorea0TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM114015506608754
HP:0002072HP:0002072Chorea0TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM113215506608754
HP:0002072HP:0002072Chorea0TYROBP CL E G H73052770ORPHA17312449604142
HP:0002072HP:0002072Chorea0TYROBP CL E G H73052770ORPHA15212449604142
HP:0002072HP:0002072Chorea0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM15212511600673
HP:0002072HP:0002072Chorea0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM14712511600673
HP:0002072HP:0002072Chorea0VPS13A CL E G H232302388ORPHA113741908605978
HP:0002072HP:0002072Chorea0VPS13A CL E G H232302388ORPHA112461908605978
HP:0002072HP:0001266Choreoathetosis1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0002072HP:0001266Choreoathetosis1ACAT2 CL E G H39614055Acetyl-CoA acetyltransferase-2 deficiency614055C0342735OMIM13294100678
HP:0002072HP:0001266Choreoathetosis1ADCY5 CL E G H111324588ORPHA1293236600293
HP:0002072HP:0001266Choreoathetosis1ADCY5 CL E G H111324588ORPHA1365236600293
HP:0002072HP:0001266Choreoathetosis1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0002072HP:0001266Choreoathetosis1ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0002072HP:0001266Choreoathetosis1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0002072HP:0001266Choreoathetosis1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0002072HP:0001266Choreoathetosis1ATXN1 CL E G H631098755ORPHA17610548601556
HP:0002072HP:0001266Choreoathetosis1ATXN1 CL E G H631098755ORPHA17810548601556
HP:0002072HP:0001266Choreoathetosis1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0002072HP:0001266Choreoathetosis1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0002072HP:0001266Choreoathetosis1ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002072HP:0001266Choreoathetosis1ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002072HP:0001266Choreoathetosis1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13910560607640
HP:0002072HP:0001266Choreoathetosis1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13710560607640
HP:0002072HP:0001266Choreoathetosis1C9orf72 CL E G H203228401901ORPHA116128337614260
HP:0002072HP:0001266Choreoathetosis1C9orf72 CL E G H203228401901ORPHA116528337614260
HP:0002072HP:0001266Choreoathetosis1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0002072HP:0001266Choreoathetosis1CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0002072HP:0001266Choreoathetosis1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11838740164010
HP:0002072HP:0001266Choreoathetosis1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11728740164010
HP:0002072HP:0001266Choreoathetosis1CP CL E G H135648818ORPHA15712295117700
HP:0002072HP:0001266Choreoathetosis1CP CL E G H135648818ORPHA14662295117700
HP:0002072HP:0001266Choreoathetosis1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0002072HP:0001266Choreoathetosis1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0002072HP:0001266Choreoathetosis1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0002072HP:0001266Choreoathetosis1DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0002072HP:0001266Choreoathetosis1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM15343811164874
HP:0002072HP:0001266Choreoathetosis1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM14913811164874
HP:0002072HP:0001266Choreoathetosis1FTL CL E G H2512157846ORPHA11093999134790
HP:0002072HP:0001266Choreoathetosis1FTL CL E G H2512157846ORPHA11383999134790
HP:0002072HP:0001266Choreoathetosis1GM2A CL E G H2760309246ORPHA11424367613109
HP:0002072HP:0001266Choreoathetosis1GM2A CL E G H2760309246ORPHA11534367613109
HP:0002072HP:0001266Choreoathetosis1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11534367613109
HP:0002072HP:0001266Choreoathetosis1GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11424367613109
HP:0002072HP:0001266Choreoathetosis1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12854389139311
HP:0002072HP:0001266Choreoathetosis1GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12554389139311
HP:0002072HP:0001266Choreoathetosis1GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1274539607468
HP:0002072HP:0001266Choreoathetosis1GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1184539607468
HP:0002072HP:0001266Choreoathetosis1GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1514574138246
HP:0002072HP:0001266Choreoathetosis1GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1474574138246
HP:0002072HP:0001266Choreoathetosis1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0002072HP:0001266Choreoathetosis1GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0002072HP:0001266Choreoathetosis1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM19654586138252
HP:0002072HP:0001266Choreoathetosis1GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM18934586138252
HP:0002072HP:0001266Choreoathetosis1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM19654586138252
HP:0002072HP:0001266Choreoathetosis1GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM18934586138252
HP:0002072HP:0001266Choreoathetosis1HTT CL E G H3064248111ORPHA11454851613004
HP:0002072HP:0001266Choreoathetosis1HTT CL E G H3064248111ORPHA13934851613004
HP:0002072HP:0001266Choreoathetosis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0002072HP:0001266Choreoathetosis1HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0002072HP:0001266Choreoathetosis1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112314203605268
HP:0002072HP:0001266Choreoathetosis1JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112214203605268
HP:0002072HP:0001266Choreoathetosis1KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA13906218176260
HP:0002072HP:0001266Choreoathetosis1KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA14386218176260
HP:0002072HP:0001266Choreoathetosis1KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002072HP:0001266Choreoathetosis1KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002072HP:0001266Choreoathetosis1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM15486323602821
HP:0002072HP:0001266Choreoathetosis1KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM13696323602821
HP:0002072HP:0001266Choreoathetosis1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116846990300005
HP:0002072HP:0001266Choreoathetosis1MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116036990300005
HP:0002072HP:0001266Choreoathetosis1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM17319691608205
HP:0002072HP:0001266Choreoathetosis1MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM16019691608205
HP:0002072HP:0001266Choreoathetosis1MICU1 CL E G H10367401768ORPHA11011530605084
HP:0002072HP:0001266Choreoathetosis1MICU1 CL E G H10367401768ORPHA11351530605084
HP:0002072HP:0001266Choreoathetosis1MRE11 CL E G H4361251347ORPHA112587230600814
HP:0002072HP:0001266Choreoathetosis1MRE11 CL E G H4361251347ORPHA112597230600814
HP:0002072HP:0001266Choreoathetosis1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0002072HP:0001266Choreoathetosis1MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0002072HP:0001266Choreoathetosis1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM148517646610661
HP:0002072HP:0001266Choreoathetosis1NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM138117646610661
HP:0002072HP:0001266Choreoathetosis1NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM119411825600635
HP:0002072HP:0001266Choreoathetosis1NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM117011825600635
HP:0002072HP:0001266Choreoathetosis1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14018142606580
HP:0002072HP:0001266Choreoathetosis1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM13728142606580
HP:0002072HP:0001266Choreoathetosis1PDE10A CL E G H10846494526ORPHA1898772610652
HP:0002072HP:0001266Choreoathetosis1PDE10A CL E G H10846494541ORPHA1898772610652
HP:0002072HP:0001266Choreoathetosis1PDE10A CL E G H10846494526ORPHA11138772610652
HP:0002072HP:0001266Choreoathetosis1PDE10A CL E G H10846494541ORPHA11138772610652
HP:0002072HP:0001266Choreoathetosis1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11138772610652
HP:0002072HP:0001266Choreoathetosis1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM1898772610652
HP:0002072HP:0001266Choreoathetosis1PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM11138772610652
HP:0002072HP:0001266Choreoathetosis1PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM1898772610652
HP:0002072HP:0001266Choreoathetosis1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1958800190040
HP:0002072HP:0001266Choreoathetosis1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1938800190040
HP:0002072HP:0001266Choreoathetosis1PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1958800190040
HP:0002072HP:0001266Choreoathetosis1PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1938800190040
HP:0002072HP:0001266Choreoathetosis1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13048804173410
HP:0002072HP:0001266Choreoathetosis1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM12838804173410
HP:0002072HP:0001266Choreoathetosis1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1419006602669
HP:0002072HP:0001266Choreoathetosis1PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1399006602669
HP:0002072HP:0001266Choreoathetosis1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0002072HP:0001266Choreoathetosis1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0002072HP:0001266Choreoathetosis1PRNP CL E G H5621157941ORPHA11319449176640
HP:0002072HP:0001266Choreoathetosis1PRNP CL E G H5621157941ORPHA11469449176640
HP:0002072HP:0001266Choreoathetosis1PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11469449176640
HP:0002072HP:0001266Choreoathetosis1PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11319449176640
HP:0002072HP:0001266Choreoathetosis1PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA159730500614386
HP:0002072HP:0001266Choreoathetosis1PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA165930500614386
HP:0002072HP:0001266Choreoathetosis1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18814957607204
HP:0002072HP:0001266Choreoathetosis1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18614957607204
HP:0002072HP:0001266Choreoathetosis1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM123718756607352
HP:0002072HP:0001266Choreoathetosis1RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM113718756607352
HP:0002072HP:0001266Choreoathetosis1SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM132930605613009
HP:0002072HP:0001266Choreoathetosis1SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM129230605613009
HP:0002072HP:0001266Choreoathetosis1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM124810947158378
HP:0002072HP:0001266Choreoathetosis1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM122010947158378
HP:0002072HP:0001266Choreoathetosis1SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0002072HP:0001266Choreoathetosis1SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0002072HP:0001266Choreoathetosis1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM143911049126455
HP:0002072HP:0001266Choreoathetosis1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM138311049126455
HP:0002072HP:0001266Choreoathetosis1SLC6A8 CL E G H653552503ORPHA177011055300036
HP:0002072HP:0001266Choreoathetosis1SLC6A8 CL E G H653552503ORPHA171611055300036
HP:0002072HP:0001266Choreoathetosis1TAF1 CL E G H687253351ORPHA132111535313650
HP:0002072HP:0001266Choreoathetosis1TAF1 CL E G H687253351ORPHA130211535313650
HP:0002072HP:0001266Choreoathetosis1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM132111535313650
HP:0002072HP:0001266Choreoathetosis1TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM130211535313650
HP:0002072HP:0001266Choreoathetosis1TBP CL E G H690898759ORPHA110211588600075
HP:0002072HP:0001266Choreoathetosis1TBP CL E G H690898759ORPHA110611588600075
HP:0002072HP:0001266Choreoathetosis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110611588600075
HP:0002072HP:0001266Choreoathetosis1TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110211588600075
HP:0002072HP:0001266Choreoathetosis1TRAPPC11 CL E G H60684369847ORPHA157325751614138
HP:0002072HP:0001266Choreoathetosis1TRAPPC11 CL E G H60684369847ORPHA167325751614138
HP:0002072HP:0001266Choreoathetosis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002072HP:0001266Choreoathetosis1TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002072HP:0001266Choreoathetosis1TREM2 CL E G H542092770ORPHA19417761605086
HP:0002072HP:0001266Choreoathetosis1TREM2 CL E G H542092770ORPHA16417761605086
HP:0002072HP:0001266Choreoathetosis1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM122828422608753
HP:0002072HP:0001266Choreoathetosis1TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM120828422608753
HP:0002072HP:0001266Choreoathetosis1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM114015506608754
HP:0002072HP:0001266Choreoathetosis1TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM113215506608754
HP:0002072HP:0001266Choreoathetosis1TYROBP CL E G H73052770ORPHA17312449604142
HP:0002072HP:0001266Choreoathetosis1TYROBP CL E G H73052770ORPHA15212449604142
HP:0002072HP:0001266Choreoathetosis1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM15212511600673
HP:0002072HP:0001266Choreoathetosis1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM14712511600673
HP:0002072HP:0001266Choreoathetosis1VPS13A CL E G H232302388ORPHA113741908605978
HP:0002072HP:0001266Choreoathetosis1VPS13A CL E G H232302388ORPHA112461908605978
HP:0002072HP:0007326Progressive choreoathetosis2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0002072HP:0007098Paroxysmal choreoathetosis2AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0002072HP:0007326Progressive choreoathetosis2ACAT2 CL E G H39614055Acetyl-CoA acetyltransferase-2 deficiency614055C0342735OMIM13294100678
HP:0002072HP:0007098Paroxysmal choreoathetosis2ACAT2 CL E G H39614055Acetyl-CoA acetyltransferase-2 deficiency614055C0342735OMIM13294100678
HP:0002072HP:0007326Progressive choreoathetosis2ADCY5 CL E G H111324588ORPHA1293236600293
HP:0002072HP:0007098Paroxysmal choreoathetosis2ADCY5 CL E G H111324588ORPHA1365236600293
HP:0002072HP:0007098Paroxysmal choreoathetosis2ADCY5 CL E G H111324588ORPHA1293236600293
HP:0002072HP:0007326Progressive choreoathetosis2ADCY5 CL E G H111324588ORPHA1365236600293
HP:0002072HP:0007098Paroxysmal choreoathetosis2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0002072HP:0007098Paroxysmal choreoathetosis2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0002072HP:0007326Progressive choreoathetosis2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1365236600293
HP:0002072HP:0007326Progressive choreoathetosis2ADCY5 CL E G H111606703Dyskinesia, familial, with facial myokymia606703C1847627OMIM1293236600293
HP:0002072HP:0007098Paroxysmal choreoathetosis2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0002072HP:0007098Paroxysmal choreoathetosis2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0002072HP:0007326Progressive choreoathetosis2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1841713607574
HP:0002072HP:0007326Progressive choreoathetosis2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM1732713607574
HP:0002072HP:0007326Progressive choreoathetosis2ATXN1 CL E G H631098755ORPHA17610548601556
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATXN1 CL E G H631098755ORPHA17810548601556
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATXN1 CL E G H631098755ORPHA17610548601556
HP:0002072HP:0007326Progressive choreoathetosis2ATXN1 CL E G H631098755ORPHA17810548601556
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0002072HP:0007326Progressive choreoathetosis2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17810548601556
HP:0002072HP:0007326Progressive choreoathetosis2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM17610548601556
HP:0002072HP:0007326Progressive choreoathetosis2ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATXN2 CL E G H631198756ORPHA15010555601517
HP:0002072HP:0007326Progressive choreoathetosis2ATXN2 CL E G H631198756ORPHA15210555601517
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13910560607640
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13710560607640
HP:0002072HP:0007326Progressive choreoathetosis2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13910560607640
HP:0002072HP:0007326Progressive choreoathetosis2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM13710560607640
HP:0002072HP:0007326Progressive choreoathetosis2C9orf72 CL E G H203228401901ORPHA116128337614260
HP:0002072HP:0007098Paroxysmal choreoathetosis2C9orf72 CL E G H203228401901ORPHA116528337614260
HP:0002072HP:0007098Paroxysmal choreoathetosis2C9orf72 CL E G H203228401901ORPHA116128337614260
HP:0002072HP:0007326Progressive choreoathetosis2C9orf72 CL E G H203228401901ORPHA116528337614260
HP:0002072HP:0007098Paroxysmal choreoathetosis2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0002072HP:0007098Paroxysmal choreoathetosis2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0002072HP:0007326Progressive choreoathetosis2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM162525695612800
HP:0002072HP:0007326Progressive choreoathetosis2CARS2 CL E G H79587616672Combined oxidative phosphorylation deficiency 27616672C4225251OMIM153125695612800
HP:0002072HP:0007098Paroxysmal choreoathetosis2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11838740164010
HP:0002072HP:0007098Paroxysmal choreoathetosis2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11728740164010
HP:0002072HP:0007326Progressive choreoathetosis2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11838740164010
HP:0002072HP:0007326Progressive choreoathetosis2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM11728740164010
HP:0002072HP:0007098Paroxysmal choreoathetosis2CP CL E G H135648818ORPHA15712295117700
HP:0002072HP:0007098Paroxysmal choreoathetosis2CP CL E G H135648818ORPHA14662295117700
HP:0002072HP:0007326Progressive choreoathetosis2CP CL E G H135648818ORPHA15712295117700
HP:0002072HP:0007326Progressive choreoathetosis2CP CL E G H135648818ORPHA14662295117700
HP:0002072HP:0007098Paroxysmal choreoathetosis2CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0002072HP:0007098Paroxysmal choreoathetosis2CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0002072HP:0007326Progressive choreoathetosis2CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13482498604927
HP:0002072HP:0007326Progressive choreoathetosis2CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM13232498604927
HP:0002072HP:0007098Paroxysmal choreoathetosis2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0002072HP:0007098Paroxysmal choreoathetosis2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0002072HP:0007326Progressive choreoathetosis2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0002072HP:0007326Progressive choreoathetosis2DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0002072HP:0007098Paroxysmal choreoathetosis2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM15343811164874
HP:0002072HP:0007098Paroxysmal choreoathetosis2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM14913811164874
HP:0002072HP:0007326Progressive choreoathetosis2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM15343811164874
HP:0002072HP:0007326Progressive choreoathetosis2FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM14913811164874
HP:0002072HP:0007326Progressive choreoathetosis2FTL CL E G H2512157846ORPHA11093999134790
HP:0002072HP:0007098Paroxysmal choreoathetosis2FTL CL E G H2512157846ORPHA11383999134790
HP:0002072HP:0007098Paroxysmal choreoathetosis2FTL CL E G H2512157846ORPHA11093999134790
HP:0002072HP:0007326Progressive choreoathetosis2FTL CL E G H2512157846ORPHA11383999134790
HP:0002072HP:0007326Progressive choreoathetosis2GM2A CL E G H2760309246ORPHA11424367613109
HP:0002072HP:0007098Paroxysmal choreoathetosis2GM2A CL E G H2760309246ORPHA11534367613109
HP:0002072HP:0007098Paroxysmal choreoathetosis2GM2A CL E G H2760309246ORPHA11424367613109
HP:0002072HP:0007326Progressive choreoathetosis2GM2A CL E G H2760309246ORPHA11534367613109
HP:0002072HP:0007098Paroxysmal choreoathetosis2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11534367613109
HP:0002072HP:0007098Paroxysmal choreoathetosis2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11424367613109
HP:0002072HP:0007326Progressive choreoathetosis2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11534367613109
HP:0002072HP:0007326Progressive choreoathetosis2GM2A CL E G H2760272750Tay-Sachs disease, variant AB272750C0268275OMIM11424367613109
HP:0002072HP:0007098Paroxysmal choreoathetosis2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12854389139311
HP:0002072HP:0007098Paroxysmal choreoathetosis2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12554389139311
HP:0002072HP:0007326Progressive choreoathetosis2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12854389139311
HP:0002072HP:0007326Progressive choreoathetosis2GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12554389139311
HP:0002072HP:0007098Paroxysmal choreoathetosis2GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1274539607468
HP:0002072HP:0007098Paroxysmal choreoathetosis2GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1184539607468
HP:0002072HP:0007326Progressive choreoathetosis2GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1274539607468
HP:0002072HP:0007326Progressive choreoathetosis2GPR88 CL E G H54112616939Chorea, childhood-onset, with psychomotor retardation616939C4310787OMIM1184539607468
HP:0002072HP:0007098Paroxysmal choreoathetosis2GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1514574138246
HP:0002072HP:0007098Paroxysmal choreoathetosis2GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1474574138246
HP:0002072HP:0007326Progressive choreoathetosis2GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1514574138246
HP:0002072HP:0007326Progressive choreoathetosis2GRIA4 CL E G H2893617864NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES617864CN800195OMIM1474574138246
HP:0002072HP:0007098Paroxysmal choreoathetosis2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0002072HP:0007098Paroxysmal choreoathetosis2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0002072HP:0007326Progressive choreoathetosis2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15874584138249
HP:0002072HP:0007326Progressive choreoathetosis2GRIN1 CL E G H2902614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant614254C3280282OMIM15314584138249
HP:0002072HP:0007098Paroxysmal choreoathetosis2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM19654586138252
HP:0002072HP:0007098Paroxysmal choreoathetosis2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM18934586138252
HP:0002072HP:0007326Progressive choreoathetosis2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM19654586138252
HP:0002072HP:0007326Progressive choreoathetosis2GRIN2B CL E G H2904616139Epileptic encephalopathy, early infantile, 27616139C4015316OMIM18934586138252
HP:0002072HP:0007098Paroxysmal choreoathetosis2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM19654586138252
HP:0002072HP:0007098Paroxysmal choreoathetosis2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM18934586138252
HP:0002072HP:0007326Progressive choreoathetosis2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM19654586138252
HP:0002072HP:0007326Progressive choreoathetosis2GRIN2B CL E G H2904613970Mental retardation, autosomal dominant 6613970C3151411OMIM18934586138252
HP:0002072HP:0007326Progressive choreoathetosis2HTT CL E G H3064248111ORPHA11454851613004
HP:0002072HP:0007098Paroxysmal choreoathetosis2HTT CL E G H3064248111ORPHA13934851613004
HP:0002072HP:0007098Paroxysmal choreoathetosis2HTT CL E G H3064248111ORPHA11454851613004
HP:0002072HP:0007326Progressive choreoathetosis2HTT CL E G H3064248111ORPHA13934851613004
HP:0002072HP:0007098Paroxysmal choreoathetosis2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0002072HP:0007098Paroxysmal choreoathetosis2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0002072HP:0007326Progressive choreoathetosis2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0002072HP:0007326Progressive choreoathetosis2HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0002072HP:0007098Paroxysmal choreoathetosis2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112314203605268
HP:0002072HP:0007098Paroxysmal choreoathetosis2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112214203605268
HP:0002072HP:0007326Progressive choreoathetosis2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112314203605268
HP:0002072HP:0007326Progressive choreoathetosis2JPH3 CL E G H57338606438Huntington disease-like 2606438C1847987OMIM112214203605268
HP:0002072HP:0007326Progressive choreoathetosis2KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA13906218176260
HP:0002072HP:0007098Paroxysmal choreoathetosis2KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA14386218176260
HP:0002072HP:0007098Paroxysmal choreoathetosis2KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA13906218176260
HP:0002072HP:0007326Progressive choreoathetosis2KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA14386218176260
HP:0002072HP:0007326Progressive choreoathetosis2KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002072HP:0007098Paroxysmal choreoathetosis2KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002072HP:0007098Paroxysmal choreoathetosis2KIF1C CL E G H10749397946ORPHA12866317603060
HP:0002072HP:0007326Progressive choreoathetosis2KIF1C CL E G H10749397946ORPHA13356317603060
HP:0002072HP:0007098Paroxysmal choreoathetosis2KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM15486323602821
HP:0002072HP:0007098Paroxysmal choreoathetosis2KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM13696323602821
HP:0002072HP:0007326Progressive choreoathetosis2KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM15486323602821
HP:0002072HP:0007326Progressive choreoathetosis2KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM13696323602821
HP:0002072HP:0007098Paroxysmal choreoathetosis2MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116846990300005
HP:0002072HP:0007098Paroxysmal choreoathetosis2MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116036990300005
HP:0002072HP:0007326Progressive choreoathetosis2MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116846990300005
HP:0002072HP:0007326Progressive choreoathetosis2MECP2 CL E G H4204300260MECP2 duplication syndrome300260C1846058OMIM116036990300005
HP:0002072HP:0007098Paroxysmal choreoathetosis2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM17319691608205
HP:0002072HP:0007098Paroxysmal choreoathetosis2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM16019691608205
HP:0002072HP:0007326Progressive choreoathetosis2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM17319691608205
HP:0002072HP:0007326Progressive choreoathetosis2MECR CL E G H51102617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities617282C4310634OMIM16019691608205
HP:0002072HP:0007326Progressive choreoathetosis2MICU1 CL E G H10367401768ORPHA11011530605084
HP:0002072HP:0007098Paroxysmal choreoathetosis2MICU1 CL E G H10367401768ORPHA11351530605084
HP:0002072HP:0007098Paroxysmal choreoathetosis2MICU1 CL E G H10367401768ORPHA11011530605084
HP:0002072HP:0007326Progressive choreoathetosis2MICU1 CL E G H10367401768ORPHA11351530605084
HP:0002072HP:0007326Progressive choreoathetosis2MRE11 CL E G H4361251347ORPHA112587230600814
HP:0002072HP:0007098Paroxysmal choreoathetosis2MRE11 CL E G H4361251347ORPHA112597230600814
HP:0002072HP:0007098Paroxysmal choreoathetosis2MRE11 CL E G H4361251347ORPHA112587230600814
HP:0002072HP:0007326Progressive choreoathetosis2MRE11 CL E G H4361251347ORPHA112597230600814
HP:0002072HP:0007098Paroxysmal choreoathetosis2MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0002072HP:0007098Paroxysmal choreoathetosis2MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0002072HP:0007326Progressive choreoathetosis2MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0002072HP:0007326Progressive choreoathetosis2MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0002072HP:0007098Paroxysmal choreoathetosis2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM148517646610661
HP:0002072HP:0007098Paroxysmal choreoathetosis2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM138117646610661
HP:0002072HP:0007326Progressive choreoathetosis2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM148517646610661
HP:0002072HP:0007326Progressive choreoathetosis2NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM138117646610661
HP:0002072HP:0007098Paroxysmal choreoathetosis2NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM119411825600635
HP:0002072HP:0007098Paroxysmal choreoathetosis2NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM117011825600635
HP:0002072HP:0007326Progressive choreoathetosis2NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM119411825600635
HP:0002072HP:0007326Progressive choreoathetosis2NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM117011825600635
HP:0002072HP:0007098Paroxysmal choreoathetosis2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14018142606580
HP:0002072HP:0007098Paroxysmal choreoathetosis2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM13728142606580
HP:0002072HP:0007326Progressive choreoathetosis2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14018142606580
HP:0002072HP:0007326Progressive choreoathetosis2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM13728142606580
HP:0002072HP:0007326Progressive choreoathetosis2PDE10A CL E G H10846494541ORPHA1898772610652
HP:0002072HP:0007326Progressive choreoathetosis2PDE10A CL E G H10846494526ORPHA1898772610652
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDE10A CL E G H10846494526ORPHA11138772610652
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDE10A CL E G H10846494541ORPHA11138772610652
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDE10A CL E G H10846494526ORPHA1898772610652
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDE10A CL E G H10846494541ORPHA1898772610652
HP:0002072HP:0007326Progressive choreoathetosis2PDE10A CL E G H10846494541ORPHA11138772610652
HP:0002072HP:0007326Progressive choreoathetosis2PDE10A CL E G H10846494526ORPHA11138772610652
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11138772610652
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM1898772610652
HP:0002072HP:0007326Progressive choreoathetosis2PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM11138772610652
HP:0002072HP:0007326Progressive choreoathetosis2PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM1898772610652
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM11138772610652
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM1898772610652
HP:0002072HP:0007326Progressive choreoathetosis2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM11138772610652
HP:0002072HP:0007326Progressive choreoathetosis2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM1898772610652
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1958800190040
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1938800190040
HP:0002072HP:0007326Progressive choreoathetosis2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1958800190040
HP:0002072HP:0007326Progressive choreoathetosis2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1938800190040
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1958800190040
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1938800190040
HP:0002072HP:0007326Progressive choreoathetosis2PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1958800190040
HP:0002072HP:0007326Progressive choreoathetosis2PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1938800190040
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13048804173410
HP:0002072HP:0007098Paroxysmal choreoathetosis2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM12838804173410
HP:0002072HP:0007326Progressive choreoathetosis2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13048804173410
HP:0002072HP:0007326Progressive choreoathetosis2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM12838804173410
HP:0002072HP:0007098Paroxysmal choreoathetosis2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1419006602669
HP:0002072HP:0007098Paroxysmal choreoathetosis2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1399006602669
HP:0002072HP:0007326Progressive choreoathetosis2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1419006602669
HP:0002072HP:0007326Progressive choreoathetosis2PITX3 CL E G H5309610623Cataract 11610623C1864567OMIM1399006602669
HP:0002072HP:0007098Paroxysmal choreoathetosis2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0002072HP:0007098Paroxysmal choreoathetosis2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0002072HP:0007326Progressive choreoathetosis2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0002072HP:0007326Progressive choreoathetosis2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0002072HP:0007326Progressive choreoathetosis2PRNP CL E G H5621157941ORPHA11319449176640
HP:0002072HP:0007098Paroxysmal choreoathetosis2PRNP CL E G H5621157941ORPHA11469449176640
HP:0002072HP:0007098Paroxysmal choreoathetosis2PRNP CL E G H5621157941ORPHA11319449176640
HP:0002072HP:0007326Progressive choreoathetosis2PRNP CL E G H5621157941ORPHA11469449176640
HP:0002072HP:0007098Paroxysmal choreoathetosis2PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11469449176640
HP:0002072HP:0007098Paroxysmal choreoathetosis2PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11319449176640
HP:0002072HP:0007326Progressive choreoathetosis2PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11469449176640
HP:0002072HP:0007326Progressive choreoathetosis2PRNP CL E G H5621603218Huntington disease-like 1603218C1864112OMIM11319449176640
HP:0002072HP:0007326Progressive choreoathetosis2PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA159730500614386
HP:0002072HP:0007098Paroxysmal choreoathetosis2PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA165930500614386
HP:0002072HP:0007098Paroxysmal choreoathetosis2PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA159730500614386
HP:0002072HP:0007326Progressive choreoathetosis2PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA165930500614386
HP:0002072HP:0007098Paroxysmal choreoathetosis2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18814957607204
HP:0002072HP:0007098Paroxysmal choreoathetosis2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18614957607204
HP:0002072HP:0007326Progressive choreoathetosis2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18814957607204
HP:0002072HP:0007326Progressive choreoathetosis2PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM18614957607204
HP:0002072HP:0007098Paroxysmal choreoathetosis2RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM123718756607352
HP:0002072HP:0007098Paroxysmal choreoathetosis2RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM113718756607352
HP:0002072HP:0007326Progressive choreoathetosis2RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM123718756607352
HP:0002072HP:0007326Progressive choreoathetosis2RHOBTB2 CL E G H23221618004EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64618004CN248512OMIM113718756607352
HP:0002072HP:0007098Paroxysmal choreoathetosis2SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM132930605613009
HP:0002072HP:0007098Paroxysmal choreoathetosis2SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM129230605613009
HP:0002072HP:0007326Progressive choreoathetosis2SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM132930605613009
HP:0002072HP:0007326Progressive choreoathetosis2SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM129230605613009
HP:0002072HP:0007098Paroxysmal choreoathetosis2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM124810947158378
HP:0002072HP:0007098Paroxysmal choreoathetosis2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM122010947158378
HP:0002072HP:0007326Progressive choreoathetosis2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM124810947158378
HP:0002072HP:0007326Progressive choreoathetosis2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM122010947158378
HP:0002072HP:0007326Progressive choreoathetosis2SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0002072HP:0007098Paroxysmal choreoathetosis2SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0002072HP:0007098Paroxysmal choreoathetosis2SLC6A3 CL E G H6531238455ORPHA138311049126455
HP:0002072HP:0007326Progressive choreoathetosis2SLC6A3 CL E G H6531238455ORPHA143911049126455
HP:0002072HP:0007098Paroxysmal choreoathetosis2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM143911049126455
HP:0002072HP:0007098Paroxysmal choreoathetosis2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM138311049126455
HP:0002072HP:0007326Progressive choreoathetosis2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM143911049126455
HP:0002072HP:0007326Progressive choreoathetosis2SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM138311049126455
HP:0002072HP:0007098Paroxysmal choreoathetosis2SLC6A8 CL E G H653552503ORPHA177011055300036
HP:0002072HP:0007098Paroxysmal choreoathetosis2SLC6A8 CL E G H653552503ORPHA171611055300036
HP:0002072HP:0007326Progressive choreoathetosis2SLC6A8 CL E G H653552503ORPHA177011055300036
HP:0002072HP:0007326Progressive choreoathetosis2SLC6A8 CL E G H653552503ORPHA171611055300036
HP:0002072HP:0007098Paroxysmal choreoathetosis2TAF1 CL E G H687253351ORPHA132111535313650
HP:0002072HP:0007098Paroxysmal choreoathetosis2TAF1 CL E G H687253351ORPHA130211535313650
HP:0002072HP:0007326Progressive choreoathetosis2TAF1 CL E G H687253351ORPHA132111535313650
HP:0002072HP:0007326Progressive choreoathetosis2TAF1 CL E G H687253351ORPHA130211535313650
HP:0002072HP:0007098Paroxysmal choreoathetosis2TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM132111535313650
HP:0002072HP:0007098Paroxysmal choreoathetosis2TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM130211535313650
HP:0002072HP:0007326Progressive choreoathetosis2TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM132111535313650
HP:0002072HP:0007326Progressive choreoathetosis2TAF1 CL E G H6872314250Dystonia 3, torsion, X-linked314250C1839130OMIM130211535313650
HP:0002072HP:0007326Progressive choreoathetosis2TBP CL E G H690898759ORPHA110211588600075
HP:0002072HP:0007098Paroxysmal choreoathetosis2TBP CL E G H690898759ORPHA110611588600075
HP:0002072HP:0007098Paroxysmal choreoathetosis2TBP CL E G H690898759ORPHA110211588600075
HP:0002072HP:0007326Progressive choreoathetosis2TBP CL E G H690898759ORPHA110611588600075
HP:0002072HP:0007098Paroxysmal choreoathetosis2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110611588600075
HP:0002072HP:0007098Paroxysmal choreoathetosis2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110211588600075
HP:0002072HP:0007326Progressive choreoathetosis2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110611588600075
HP:0002072HP:0007326Progressive choreoathetosis2TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110211588600075
HP:0002072HP:0007326Progressive choreoathetosis2TRAPPC11 CL E G H60684369847ORPHA157325751614138
HP:0002072HP:0007098Paroxysmal choreoathetosis2TRAPPC11 CL E G H60684369847ORPHA167325751614138
HP:0002072HP:0007098Paroxysmal choreoathetosis2TRAPPC11 CL E G H60684369847ORPHA157325751614138
HP:0002072HP:0007326Progressive choreoathetosis2TRAPPC11 CL E G H60684369847ORPHA167325751614138
HP:0002072HP:0007098Paroxysmal choreoathetosis2TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002072HP:0007098Paroxysmal choreoathetosis2TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002072HP:0007326Progressive choreoathetosis2TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002072HP:0007326Progressive choreoathetosis2TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002072HP:0007098Paroxysmal choreoathetosis2TREM2 CL E G H542092770ORPHA19417761605086
HP:0002072HP:0007098Paroxysmal choreoathetosis2TREM2 CL E G H542092770ORPHA16417761605086
HP:0002072HP:0007326Progressive choreoathetosis2TREM2 CL E G H542092770ORPHA19417761605086
HP:0002072HP:0007326Progressive choreoathetosis2TREM2 CL E G H542092770ORPHA16417761605086
HP:0002072HP:0007098Paroxysmal choreoathetosis2TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM122828422608753
HP:0002072HP:0007098Paroxysmal choreoathetosis2TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM120828422608753
HP:0002072HP:0007326Progressive choreoathetosis2TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM122828422608753
HP:0002072HP:0007326Progressive choreoathetosis2TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM120828422608753
HP:0002072HP:0007098Paroxysmal choreoathetosis2TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM114015506608754
HP:0002072HP:0007098Paroxysmal choreoathetosis2TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM113215506608754
HP:0002072HP:0007326Progressive choreoathetosis2TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM114015506608754
HP:0002072HP:0007326Progressive choreoathetosis2TSEN34 CL E G H79042612390Pontocerebellar hypoplasia type 2C612390C2676465OMIM113215506608754
HP:0002072HP:0007098Paroxysmal choreoathetosis2TYROBP CL E G H73052770ORPHA17312449604142
HP:0002072HP:0007098Paroxysmal choreoathetosis2TYROBP CL E G H73052770ORPHA15212449604142
HP:0002072HP:0007326Progressive choreoathetosis2TYROBP CL E G H73052770ORPHA17312449604142
HP:0002072HP:0007326Progressive choreoathetosis2TYROBP CL E G H73052770ORPHA15212449604142
HP:0002072HP:0007098Paroxysmal choreoathetosis2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM15212511600673
HP:0002072HP:0007098Paroxysmal choreoathetosis2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM14712511600673
HP:0002072HP:0007326Progressive choreoathetosis2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM15212511600673
HP:0002072HP:0007326Progressive choreoathetosis2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM14712511600673
HP:0002072HP:0007098Paroxysmal choreoathetosis2VPS13A CL E G H232302388ORPHA113741908605978
HP:0002072HP:0007098Paroxysmal choreoathetosis2VPS13A CL E G H232302388ORPHA112461908605978
HP:0002072HP:0007326Progressive choreoathetosis2VPS13A CL E G H232302388ORPHA113741908605978
HP:0002072HP:0007326Progressive choreoathetosis2VPS13A CL E G H232302388ORPHA112461908605978
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002072HP:0002072Chorea0ADA2 CL E G H51816820ORPHA03901839607575
HP:0002072HP:0002072Chorea0ADA2 CL E G H51816820ORPHA03101839607575
HP:0002072HP:0002072Chorea0ARSA CL E G H410309271ORPHA0841713607574
HP:0002072HP:0002072Chorea0ARSA CL E G H410309271ORPHA0732713607574
HP:0002072HP:0002072Chorea0ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM01033033607462
HP:0002072HP:0002072Chorea0ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM0963033607462
HP:0002072HP:0002072Chorea0ATP7A CL E G H538565ORPHA01003869300011
HP:0002072HP:0002072Chorea0ATP7A CL E G H538565ORPHA0897869300011
HP:0002072HP:0002072Chorea0FXN CL E G H239595ORPHA01313951606829
HP:0002072HP:0002072Chorea0GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM02854389139311
HP:0002072HP:0002072Chorea0GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM02554389139311
HP:0002072HP:0002072Chorea0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM06344839300019
HP:0002072HP:0002072Chorea0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM06014839300019
HP:0002072HP:0002072Chorea0JPH3 CL E G H5733898934ORPHA012314203605268
HP:0002072HP:0002072Chorea0JPH3 CL E G H5733898934ORPHA012214203605268
HP:0002072HP:0002072Chorea0KCNMA1 CL E G H377879137ORPHA07206284600150
HP:0002072HP:0002072Chorea0KCNMA1 CL E G H377879137ORPHA06326284600150
HP:0002072HP:0002072Chorea0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM01351530605084
HP:0002072HP:0002072Chorea0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM01011530605084
HP:0002072HP:0002072Chorea0PANK2 CL E G H80025216873ORPHA033115894606157
HP:0002072HP:0002072Chorea0PANK2 CL E G H80025216873ORPHA026315894606157
HP:0002072HP:0002072Chorea0PRNP CL E G H5621282166ORPHA01469449176640
HP:0002072HP:0002072Chorea0PRNP CL E G H5621282166ORPHA01319449176640
HP:0002072HP:0002072Chorea0PSAP CL E G H5660309271ORPHA05029498176801
HP:0002072HP:0002072Chorea0PSAP CL E G H5660309271ORPHA03909498176801
HP:0002072HP:0002072Chorea0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01087445608465
HP:0002072HP:0002072Chorea0SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM0941445608465
HP:0002072HP:0002072Chorea0TRAPPC11 CL E G H60684369840ORPHA067325751614138
HP:0002072HP:0002072Chorea0TRAPPC11 CL E G H60684369840ORPHA057325751614138
HP:0002072HP:0001266Choreoathetosis1ADA2 CL E G H51816820ORPHA03901839607575
HP:0002072HP:0001266Choreoathetosis1ADA2 CL E G H51816820ORPHA03101839607575
HP:0002072HP:0001266Choreoathetosis1ARSA CL E G H410309271ORPHA0732713607574
HP:0002072HP:0001266Choreoathetosis1ARSA CL E G H410309271ORPHA0841713607574
HP:0002072HP:0001266Choreoathetosis1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM01033033607462
HP:0002072HP:0001266Choreoathetosis1ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM0963033607462
HP:0002072HP:0001266Choreoathetosis1ATP7A CL E G H538565ORPHA01003869300011
HP:0002072HP:0001266Choreoathetosis1ATP7A CL E G H538565ORPHA0897869300011
HP:0002072HP:0001266Choreoathetosis1FXN CL E G H239595ORPHA01313951606829
HP:0002072HP:0001266Choreoathetosis1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM02854389139311
HP:0002072HP:0001266Choreoathetosis1GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM02554389139311
HP:0002072HP:0001266Choreoathetosis1HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM06344839300019
HP:0002072HP:0001266Choreoathetosis1HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM06014839300019
HP:0002072HP:0001266Choreoathetosis1JPH3 CL E G H5733898934ORPHA012214203605268
HP:0002072HP:0001266Choreoathetosis1JPH3 CL E G H5733898934ORPHA012314203605268
HP:0002072HP:0001266Choreoathetosis1KCNMA1 CL E G H377879137ORPHA07206284600150
HP:0002072HP:0001266Choreoathetosis1KCNMA1 CL E G H377879137ORPHA06326284600150
HP:0002072HP:0001266Choreoathetosis1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM01351530605084
HP:0002072HP:0001266Choreoathetosis1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM01011530605084
HP:0002072HP:0001266Choreoathetosis1PANK2 CL E G H80025216873ORPHA026315894606157
HP:0002072HP:0001266Choreoathetosis1PANK2 CL E G H80025216873ORPHA033115894606157
HP:0002072HP:0001266Choreoathetosis1PRNP CL E G H5621282166ORPHA01319449176640
HP:0002072HP:0001266Choreoathetosis1PRNP CL E G H5621282166ORPHA01469449176640
HP:0002072HP:0001266Choreoathetosis1PSAP CL E G H5660309271ORPHA03909498176801
HP:0002072HP:0001266Choreoathetosis1PSAP CL E G H5660309271ORPHA05029498176801
HP:0002072HP:0001266Choreoathetosis1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01087445608465
HP:0002072HP:0001266Choreoathetosis1SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM0941445608465
HP:0002072HP:0001266Choreoathetosis1TRAPPC11 CL E G H60684369840ORPHA057325751614138
HP:0002072HP:0001266Choreoathetosis1TRAPPC11 CL E G H60684369840ORPHA067325751614138
HP:0002072HP:0007098Paroxysmal choreoathetosis2ADA2 CL E G H51816820ORPHA03901839607575
HP:0002072HP:0007098Paroxysmal choreoathetosis2ADA2 CL E G H51816820ORPHA03101839607575
HP:0002072HP:0007326Progressive choreoathetosis2ADA2 CL E G H51816820ORPHA03901839607575
HP:0002072HP:0007326Progressive choreoathetosis2ADA2 CL E G H51816820ORPHA03101839607575
HP:0002072HP:0007326Progressive choreoathetosis2ARSA CL E G H410309271ORPHA0732713607574
HP:0002072HP:0007098Paroxysmal choreoathetosis2ARSA CL E G H410309271ORPHA0841713607574
HP:0002072HP:0007098Paroxysmal choreoathetosis2ARSA CL E G H410309271ORPHA0732713607574
HP:0002072HP:0007326Progressive choreoathetosis2ARSA CL E G H410309271ORPHA0841713607574
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM01033033607462
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM0963033607462
HP:0002072HP:0007326Progressive choreoathetosis2ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM01033033607462
HP:0002072HP:0007326Progressive choreoathetosis2ATN1 CL E G H1822125370Dentatorubral pallidoluysian atrophy125370C0751781OMIM0963033607462
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATP7A CL E G H538565ORPHA01003869300011
HP:0002072HP:0007098Paroxysmal choreoathetosis2ATP7A CL E G H538565ORPHA0897869300011
HP:0002072HP:0007326Progressive choreoathetosis2ATP7A CL E G H538565ORPHA01003869300011
HP:0002072HP:0007326Progressive choreoathetosis2ATP7A CL E G H538565ORPHA0897869300011
HP:0002072HP:0007326Progressive choreoathetosis2FXN CL E G H239595ORPHA01313951606829
HP:0002072HP:0007098Paroxysmal choreoathetosis2FXN CL E G H239595ORPHA01313951606829
HP:0002072HP:0007098Paroxysmal choreoathetosis2GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM02854389139311
HP:0002072HP:0007098Paroxysmal choreoathetosis2GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM02554389139311
HP:0002072HP:0007326Progressive choreoathetosis2GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM02854389139311
HP:0002072HP:0007326Progressive choreoathetosis2GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM02554389139311
HP:0002072HP:0007098Paroxysmal choreoathetosis2HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM06344839300019
HP:0002072HP:0007098Paroxysmal choreoathetosis2HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM06014839300019
HP:0002072HP:0007326Progressive choreoathetosis2HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM06344839300019
HP:0002072HP:0007326Progressive choreoathetosis2HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM06014839300019
HP:0002072HP:0007326Progressive choreoathetosis2JPH3 CL E G H5733898934ORPHA012214203605268
HP:0002072HP:0007098Paroxysmal choreoathetosis2JPH3 CL E G H5733898934ORPHA012314203605268
HP:0002072HP:0007098Paroxysmal choreoathetosis2JPH3 CL E G H5733898934ORPHA012214203605268
HP:0002072HP:0007326Progressive choreoathetosis2JPH3 CL E G H5733898934ORPHA012314203605268
HP:0002072HP:0007098Paroxysmal choreoathetosis2KCNMA1 CL E G H377879137ORPHA07206284600150
HP:0002072HP:0007098Paroxysmal choreoathetosis2KCNMA1 CL E G H377879137ORPHA06326284600150
HP:0002072HP:0007326Progressive choreoathetosis2KCNMA1 CL E G H377879137ORPHA07206284600150
HP:0002072HP:0007326Progressive choreoathetosis2KCNMA1 CL E G H377879137ORPHA06326284600150
HP:0002072HP:0007098Paroxysmal choreoathetosis2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM01351530605084
HP:0002072HP:0007098Paroxysmal choreoathetosis2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM01011530605084
HP:0002072HP:0007326Progressive choreoathetosis2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM01351530605084
HP:0002072HP:0007326Progressive choreoathetosis2MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM01011530605084
HP:0002072HP:0007326Progressive choreoathetosis2PANK2 CL E G H80025216873ORPHA026315894606157
HP:0002072HP:0007098Paroxysmal choreoathetosis2PANK2 CL E G H80025216873ORPHA033115894606157
HP:0002072HP:0007098Paroxysmal choreoathetosis2PANK2 CL E G H80025216873ORPHA026315894606157
HP:0002072HP:0007326Progressive choreoathetosis2PANK2 CL E G H80025216873ORPHA033115894606157
HP:0002072HP:0007326Progressive choreoathetosis2PRNP CL E G H5621282166ORPHA01319449176640
HP:0002072HP:0007098Paroxysmal choreoathetosis2PRNP CL E G H5621282166ORPHA01469449176640
HP:0002072HP:0007098Paroxysmal choreoathetosis2PRNP CL E G H5621282166ORPHA01319449176640
HP:0002072HP:0007326Progressive choreoathetosis2PRNP CL E G H5621282166ORPHA01469449176640
HP:0002072HP:0007326Progressive choreoathetosis2PSAP CL E G H5660309271ORPHA03909498176801
HP:0002072HP:0007098Paroxysmal choreoathetosis2PSAP CL E G H5660309271ORPHA05029498176801
HP:0002072HP:0007098Paroxysmal choreoathetosis2PSAP CL E G H5660309271ORPHA03909498176801
HP:0002072HP:0007326Progressive choreoathetosis2PSAP CL E G H5660309271ORPHA05029498176801
HP:0002072HP:0007098Paroxysmal choreoathetosis2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01087445608465
HP:0002072HP:0007098Paroxysmal choreoathetosis2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM0941445608465
HP:0002072HP:0007326Progressive choreoathetosis2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM01087445608465
HP:0002072HP:0007326Progressive choreoathetosis2SETX CL E G H23064606002Spinocerebellar ataxia autosomal recessive 1606002C1853761OMIM0941445608465
HP:0002072HP:0007326Progressive choreoathetosis2TRAPPC11 CL E G H60684369840ORPHA057325751614138
HP:0002072HP:0007098Paroxysmal choreoathetosis2TRAPPC11 CL E G H60684369840ORPHA067325751614138
HP:0002072HP:0007098Paroxysmal choreoathetosis2TRAPPC11 CL E G H60684369840ORPHA057325751614138
HP:0002072HP:0007326Progressive choreoathetosis2TRAPPC11 CL E G H60684369840ORPHA067325751614138


Genes (122) :AARS ACAT2 ADA2 ADAR ADCY5 AP1S2 APTX ARSA ARX ATM ATN1 ATP1A2 ATP1A3 ATP6 ATP7A ATXN1 ATXN2 ATXN7 C9ORF72 C9orf72 CARS2 CHMP1A CP CTDP1 DCAF17 DDC DHX30 DLAT ELP2 ERCC2 ERCC6 FBXL4 FOXG1 FRRS1L FTL FXN GCDH GCH1 GJC2 GM2A GNAO1 GNAS GPR88 GRIA4 GRIN1 GRIN2B GTPBP2 GUF1 HCFC1 HPRT1 HSD17B10 HSPD1 HTT IRF2BPL JPH3 KCNA1 KCNMA1 KCNQ2 KCNQ3 KIF1C KIF5A MECP2 MECR MICOS13 MICU1 MMUT MRE11 MRPS34 NADK2 NDUFA1 NDUFA13 NDUFA9 NDUFAF5 NGLY1 NKX2-1 NUP62 OPA3 PANK2 PDE10A PDGFB PDGFRB PDHA1 PIGN PIK3R5 PITX3 PLA2G6 PLP1 PNKD PNPT1 POLG PRNP PRRT2 PSAP PTS PUM1 QDPR RHOBTB2 SCN2A SCN8A SEPSECS SETX SLC20A2 SLC2A1 SLC30A9 SLC6A3 SLC6A8 SPR ST3GAL5 SUOX SYT1 TAF1 TBP TRAPPC11 TREM2 TSEN2 TSEN34 TUBB4A TYROBP UBTF VPS13A XPA XPR1

Diseases (155) :616339 614055 820 324588 606703 309271 250100 125370 565 98755 164400 98756 164500 401901 616672 614961 48818 604168 617804 613454 157846 95 309246 272750 615473 617493 616939 617864 614254 616139 613970 309541 248111 143100 98934 606438 98809 79137 397946 617235 300260 617282 401768 615673 251347 604391 615273 118700 258501 216873 494541 494526 616921 616922 213600 615483 610623 610217 282166 157941 603218 617931 618004 613811 606002 238455 613135 52503 53351 314250 98759 607136 369840 369847 615356 2770 612389 612390 617672 2388 225154 304340 208920 308350 208900 101 104290 614820 3464 241080 608643 245348 617270 278730 278800 615471 616981 606159 25 231670 233910 608804 79443 617988 617065 300322 300438 612233 618088 37612 306 300055 67047 289916 79312 617664 431361 616034 301020 618249 618247 618238 610978 271930 234200 312170 614080 64753 312080 98810 614932 726 98811 261640 13 261630 53583 71277 601042 606777 612126 617595 612716 370938 609056 272300 618218 612438 278700 616413 118800 31709 128200 602066 200150
 

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