Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Chorea (HP:0002072)help
..Starting node
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Choreoathetosis (HP:0001266)help
Term ID: 1266
Name: Choreoathetosis
Synonym: Choreoathetoid movements
Definition: Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Comments:
Reference: HP:0001266
Genes and Diseases:
 
       Child Nodes:
........expandParoxysmal choreoathetosis (HP:0007098) help
........expandProgressive choreoathetosis (HP:0007326) help

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001266HP:0001266Choreoathetosis0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0001266HP:0001266Choreoathetosis0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0001266HP:0001266Choreoathetosis0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0001266HP:0001266Choreoathetosis0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0001266HP:0001266Choreoathetosis0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1.166
HP:0001266HP:0001266Choreoathetosis0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0001266HP:0001266Choreoathetosis0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0001266HP:0001266Choreoathetosis0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0001266HP:0001266Choreoathetosis0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0001266HP:0001266Choreoathetosis0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia.16
HP:0001266HP:0001266Choreoathetosis0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0001266HP:0001266Choreoathetosis0ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1.239
HP:0001266HP:0001266Choreoathetosis0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0001266HP:0001266Choreoathetosis0ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150
HP:0001266HP:0001266Choreoathetosis0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0001266HP:0001266Choreoathetosis0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0001266HP:0001266Choreoathetosis0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0001266HP:0001266Choreoathetosis0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0001266HP:0001266Choreoathetosis0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0001266HP:0001266Choreoathetosis0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0001266HP:0001266Choreoathetosis0CHKA CL E G H11191937OMIM:620023
HP:0001266HP:0001266Choreoathetosis0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0001266HP:0001266Choreoathetosis0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0001266HP:0001266Choreoathetosis0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0001266HP:0001266Choreoathetosis0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0001266HP:0001266Choreoathetosis0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0001266HP:0001266Choreoathetosis0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0001266HP:0001266Choreoathetosis0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0001266HP:0001266Choreoathetosis0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0001266HP:0001266Choreoathetosis0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0001266HP:0001266Choreoathetosis0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 58.6
HP:0001266HP:0001266Choreoathetosis0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0001266HP:0001266Choreoathetosis0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0001266HP:0001266Choreoathetosis0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)HP:0040283 - Occasional384
HP:0001266HP:0001266Choreoathetosis0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001266HP:0001266Choreoathetosis0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0001266HP:0001266Choreoathetosis0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0001266HP:0001266Choreoathetosis0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0001266HP:0001266Choreoathetosis0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0001266HP:0001266Choreoathetosis0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0001266HP:0001266Choreoathetosis0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0001266HP:0001266Choreoathetosis0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0001266HP:0001266Choreoathetosis0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0001266HP:0001266Choreoathetosis0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0001266HP:0001266Choreoathetosis0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0001266HP:0001266Choreoathetosis0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0001266HP:0001266Choreoathetosis0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0001266HP:0001266Choreoathetosis0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0001266HP:0001266Choreoathetosis0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0001266HP:0001266Choreoathetosis0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0001266HP:0001266Choreoathetosis0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0001266HP:0001266Choreoathetosis0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0001266HP:0001266Choreoathetosis0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0001266HP:0001266Choreoathetosis0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0001266HP:0001266Choreoathetosis0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0001266HP:0001266Choreoathetosis0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0001266HP:0001266Choreoathetosis0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0001266HP:0001266Choreoathetosis0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0001266HP:0001266Choreoathetosis0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3HP:0040281 - Very frequent
HP:0001266HP:0001266Choreoathetosis0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0001266HP:0001266Choreoathetosis0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0001266HP:0001266Choreoathetosis0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0001266HP:0001266Choreoathetosis0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0001266HP:0001266Choreoathetosis0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0001266HP:0001266Choreoathetosis0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0001266HP:0001266Choreoathetosis0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 12.7
HP:0001266HP:0001266Choreoathetosis0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0001266HP:0001266Choreoathetosis0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0001266HP:0001266Choreoathetosis0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0001266HP:0001266Choreoathetosis0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0001266HP:0001266Choreoathetosis0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040282 - Frequent51
HP:0001266HP:0001266Choreoathetosis0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0001266HP:0001266Choreoathetosis0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0001266HP:0001266Choreoathetosis0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0001266HP:0001266Choreoathetosis0OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3HP:0040281 - Very frequent163
HP:0001266HP:0001266Choreoathetosis0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0001266HP:0001266Choreoathetosis0PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent
HP:0001266HP:0001266Choreoathetosis0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0001266HP:0001266Choreoathetosis0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1HP:0040282 - Frequent37
HP:0001266HP:0001266Choreoathetosis0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0001266HP:0001266Choreoathetosis0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0001266HP:0001266Choreoathetosis0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0001266HP:0001266Choreoathetosis0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0001266HP:0001266Choreoathetosis0PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent66
HP:0001266HP:0001266Choreoathetosis0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0001266HP:0001266Choreoathetosis0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0001266HP:0001266Choreoathetosis0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040282 - Frequent60
HP:0001266HP:0001266Choreoathetosis0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0001266HP:0001266Choreoathetosis0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0001266HP:0001266Choreoathetosis0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0001266HP:0001266Choreoathetosis0PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis94
HP:0001266HP:0001266Choreoathetosis0PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 194
HP:0001266HP:0001266Choreoathetosis0PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent94
HP:0001266HP:0001266Choreoathetosis0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040281 - Very frequent94
HP:0001266HP:0001266Choreoathetosis0PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent94
HP:0001266HP:0001266Choreoathetosis0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0001266HP:0001266Choreoathetosis0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0001266HP:0001266Choreoathetosis0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0001266HP:0001266Choreoathetosis0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0001266HP:0001266Choreoathetosis0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0001266HP:0001266Choreoathetosis0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0001266HP:0001266Choreoathetosis0SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent357
HP:0001266HP:0001266Choreoathetosis0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent66
HP:0001266HP:0001266Choreoathetosis0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0001266HP:0001266Choreoathetosis0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0001266HP:0001266Choreoathetosis0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0001266HP:0001266Choreoathetosis0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0001266HP:0001266Choreoathetosis0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0001266HP:0001266Choreoathetosis0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0001266HP:0001266Choreoathetosis0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0001266HP:0001266Choreoathetosis0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0001266HP:0001266Choreoathetosis0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0001266HP:0001266Choreoathetosis0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0001266HP:0001266Choreoathetosis0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0001266HP:0001266Choreoathetosis0SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040282 - Frequent255
HP:0001266HP:0001266Choreoathetosis0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040281 - Very frequent255
HP:0001266HP:0001266Choreoathetosis0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0001266HP:0001266Choreoathetosis0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0001266HP:0001266Choreoathetosis0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0001266HP:0001266Choreoathetosis0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0001266HP:0001266Choreoathetosis0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0001266HP:0001266Choreoathetosis0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0001266HP:0001266Choreoathetosis0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0001266HP:0001266Choreoathetosis0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0001266HP:0001266Choreoathetosis0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0001266HP:0001266Choreoathetosis0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0001266HP:0001266Choreoathetosis0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0001266HP:0001266Choreoathetosis0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0001266HP:0001266Choreoathetosis0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0001266HP:0001266Choreoathetosis0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0001266HP:0001266Choreoathetosis0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent3
HP:0001266HP:0001266Choreoathetosis0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent84
HP:0001266HP:0001266Choreoathetosis0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent57
HP:0001266HP:0001266Choreoathetosis0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent102
HP:0001266HP:0001266Choreoathetosis0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0001266HP:0001266Choreoathetosis0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0001266HP:0001266Choreoathetosis0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0001266HP:0001266Choreoathetosis0XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 6.4
HP:0001266HP:0007098Paroxysmal choreoathetosis1PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0001266HP:0007098Paroxysmal choreoathetosis1PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis.94
HP:0001266HP:0007098Paroxysmal choreoathetosis1PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 1.94
HP:0001266HP:0007326Progressive choreoathetosis1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130


Genes (113) :ABHD16A ADAR ADCY5 AP1S2 ARX ATG7 ATM ATN1 ATP1A2 ATP1A3 ATP6 CACNA1A CACNA1B CASK CDKL5 CERS1 CHKA CLPB COX20 DCAF17 DDC DLAT DMXL2 EIF2AK2 ELP2 ERCC2 ERCC6 FBXL4 FBXO28 FRRS1L FTL GCDH GCH1 GJC2 GNAO1 GNAS GON7 GRIK2 GRIN1 GRM7 GTPBP2 GUF1 HPRT1 HSD17B10 HSPD1 IREB2 IRF2BPL KCNA1 MECP2 MED23 MICOS13 MICU1 MMUT MRPS34 NADK2 NDUFA1 NDUFA13 NDUFA9 NDUFAF5 NEUROD2 NKX2-1 NUP62 OPA3 PANK2 PDE2A PDHA1 PIGN PIGP PIGQ PIK3R5 PLP1 PNKD PNKP PNPT1 POLG POU3F3 PRRT2 PTS QDPR SCN1A SCN1B SCN2A SCN8A SEPSECS SETX SH2B1 SIK1 SLC16A2 SLC1A3 SLC25A22 SLC25A42 SLC2A1 SLC30A9 SPR SPTBN4 ST3GAL5 STXBP1 SUCLG1 SUOX SYT1 TIMM50 TMEM106B TNR TOE1 TRIM8 TSEN15 TSEN2 TSEN34 TSEN54 TUBB4A VPS13A XPA XPR1

Diseases (107) :OMIM:619735 ORPHA:225154 OMIM:606703 OMIM:304340 OMIM:308350 ORPHA:1934 OMIM:619422 OMIM:208900 ORPHA:101 OMIM:125370 ORPHA:2131 OMIM:104290 OMIM:614820 OMIM:618497 OMIM:616230 OMIM:620023 ORPHA:445038 OMIM:616271 OMIM:619054 OMIM:241080 ORPHA:3464 OMIM:608643 OMIM:245348 OMIM:618877 OMIM:617270 OMIM:278730 OMIM:278800 OMIM:615471 OMIM:619777 OMIM:616981 OMIM:606159 OMIM:231670 OMIM:233910 OMIM:608804 ORPHA:79443 OMIM:619603 OMIM:619580 OMIM:617988 OMIM:617065 OMIM:300322 ORPHA:391428 OMIM:300438 OMIM:612233 OMIM:618451 OMIM:618088 ORPHA:37612 OMIM:300055 OMIM:614249 ORPHA:67047 OMIM:615673 ORPHA:79312 ORPHA:289916 OMIM:617664 OMIM:616034 ORPHA:431361 OMIM:301020 OMIM:618249 OMIM:618247 OMIM:618238 ORPHA:209905 OMIM:610978 OMIM:271930 OMIM:234200 ORPHA:31709 OMIM:312170 OMIM:614080 ORPHA:64753 OMIM:312080 ORPHA:98810 OMIM:118800 ORPHA:319514 OMIM:614932 ORPHA:726 OMIM:618604 OMIM:602066 OMIM:128200 ORPHA:98811 ORPHA:13 OMIM:261640 OMIM:261630 OMIM:619317 ORPHA:2524 ORPHA:261197 ORPHA:59 OMIM:618416 ORPHA:71277 OMIM:601042 OMIM:606777 OMIM:612126 ORPHA:53583 OMIM:617595 OMIM:612716 OMIM:617519 OMIM:609056 OMIM:612164 ORPHA:17 OMIM:272300 OMIM:618218 ORPHA:522077 OMIM:617698 OMIM:617964 OMIM:619653 OMIM:614969 OMIM:612438 OMIM:200150 OMIM:278700 OMIM:616413
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.