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
..expandMotor stereotypy (HP:0000733) help
..expandMyoclonus (HP:0001336) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002072HP:0002072Chorea0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0002072HP:0002072Chorea0ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002072HP:0002072Chorea0ACAT2 CL E G H3994OMIM:614055Acetyl-Coa acetyltransferase-2 deficiency.
HP:0002072HP:0002072Chorea0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0002072HP:0002072Chorea0ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040283 - Occasional22
HP:0002072HP:0002072Chorea0ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosis116
HP:0002072HP:0002072Chorea0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia.25
HP:0002072HP:0002072Chorea0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040282 - Frequent25
HP:0002072HP:0002072Chorea0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional114
HP:0002072HP:0002072Chorea0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome13
HP:0002072HP:0002072Chorea0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0002072HP:0002072Chorea0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia61
HP:0002072HP:0002072Chorea0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0002072HP:0002072Chorea0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0002072HP:0002072Chorea0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0002072HP:0002072Chorea0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0002072HP:0002072Chorea0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002072HP:0002072Chorea0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0002072HP:0002072Chorea0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophy16
HP:0002072HP:0002072Chorea0ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia16
HP:0002072HP:0002072Chorea0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0002072HP:0002072Chorea0ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1239
HP:0002072HP:0002072Chorea0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0002072HP:0002072Chorea0ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2150
HP:0002072HP:0002072Chorea0ATP5MK CL E G H8483330889OMIM:618683MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0002072HP:0002072Chorea0ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosis
HP:0002072HP:0002072Chorea0ATP6 CL E G H45087414ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040283 - Occasional192
HP:0002072HP:0002072Chorea0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0002072HP:0002072Chorea0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0002072HP:0002072Chorea0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0002072HP:0002072Chorea0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8
HP:0002072HP:0002072Chorea0C9ORF72 CL E G H20322828337ORPHA:401901Huntington disease-like syndrome due to C9ORF72 expansionsHP:0040282 - Frequent56
HP:0002072HP:0002072Chorea0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0002072HP:0002072Chorea0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements5
HP:0002072HP:0002072Chorea0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0002072HP:0002072Chorea0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0002072HP:0002072Chorea0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0002072HP:0002072Chorea0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0002072HP:0002072Chorea0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0002072HP:0002072Chorea0CHKA CL E G H11191937OMIM:620023
HP:0002072HP:0002072Chorea0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0002072HP:0002072Chorea0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0002072HP:0002072Chorea0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040284 - Very rare45
HP:0002072HP:0002072Chorea0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 738
HP:0002072HP:0002072Chorea0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0002072HP:0002072Chorea0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0002072HP:0002072Chorea0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040282 - Frequent115
HP:0002072HP:0002072Chorea0CP CL E G H13562295OMIM:604290ACERULOPLASMINEMIA.115
HP:0002072HP:0002072Chorea0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0002072HP:0002072Chorea0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0002072HP:0002072Chorea0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0002072HP:0002072Chorea0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002072HP:0002072Chorea0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0002072HP:0002072Chorea0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0002072HP:0002072Chorea0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0002072HP:0002072Chorea0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002072HP:0002072Chorea0DYSF CL E G H82913097ORPHA:268Dysferlin-related limb-girdle muscular dystrophy R2HP:0040284 - Very rare600
HP:0002072HP:0002072Chorea0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002072HP:0002072Chorea0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0002072HP:0002072Chorea0ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D106
HP:0002072HP:0002072Chorea0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0002072HP:0002072Chorea0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)384
HP:0002072HP:0002072Chorea0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002072HP:0002072Chorea0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0002072HP:0002072Chorea0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 374
HP:0002072HP:0002072Chorea0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0002072HP:0002072Chorea0FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0002072HP:0002072Chorea0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional105
HP:0002072HP:0002072Chorea0FXN CL E G H23953951ORPHA:95Friedreich ataxiaHP:0040283 - Occasional18
HP:0002072HP:0002072Chorea0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0002072HP:0002072Chorea0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0002072HP:0002072Chorea0GCDH CL E G H26394189OMIM:231670Glutaric acidemia I115
HP:0002072HP:0002072Chorea0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0002072HP:0002072Chorea0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0002072HP:0002072Chorea0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 237
HP:0002072HP:0002072Chorea0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040283 - Occasional6
HP:0002072HP:0002072Chorea0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040282 - Frequent69
HP:0002072HP:0002072Chorea0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0002072HP:0002072Chorea0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0002072HP:0002072Chorea0GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 17HP:0040283 - Occasional36
HP:0002072HP:0002072Chorea0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0002072HP:0002072Chorea0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0002072HP:0002072Chorea0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002072HP:0002072Chorea0GPR88 CL E G H541124539OMIM:616939Chorea, childhood-onset, with psychomotor retardation1
HP:0002072HP:0002072Chorea0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0002072HP:0002072Chorea0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0002072HP:0002072Chorea0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002072HP:0002072Chorea0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0002072HP:0002072Chorea0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0002072HP:0002072Chorea0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27.274
HP:0002072HP:0002072Chorea0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures.274
HP:0002072HP:0002072Chorea0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0002072HP:0002072Chorea0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0002072HP:0002072Chorea0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0002072HP:0002072Chorea0HCFC1 CL E G H30544839OMIM:309541Methylmalonic acidemia and homocysteinemia, Cblx typeHP:0040283 - Occasional100
HP:0002072HP:0002072Chorea0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0002072HP:0002072Chorea0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile type19
HP:0002072HP:0002072Chorea0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0002072HP:0002072Chorea0HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 446
HP:0002072HP:0002072Chorea0HTT CL E G H30644851OMIM:143100Huntington disease.12
HP:0002072HP:0002072Chorea0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040281 - Very frequent12
HP:0002072HP:0002072Chorea0HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040282 - Frequent12
HP:0002072HP:0002072Chorea0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0002072HP:0002072Chorea0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
HP:0002072HP:0002072Chorea0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 2.2
HP:0002072HP:0002072Chorea0JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 2HP:0040283 - Occasional2
HP:0002072HP:0002072Chorea0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0002072HP:0002072Chorea0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1145
HP:0002072HP:0002072Chorea0KCNA1 CL E G H37366218ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent145
HP:0002072HP:0002072Chorea0KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndromeHP:0040283 - Occasional114
HP:0002072HP:0002072Chorea0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002072HP:0002072Chorea0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040282 - Frequent38
HP:0002072HP:0002072Chorea0KIF5A CL E G H37986323OMIM:617235Myoclonus, intractable, neonatal.93
HP:0002072HP:0002072Chorea0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040282 - Frequent191
HP:0002072HP:0002072Chorea0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002072HP:0002072Chorea0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002072HP:0002072Chorea0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities.6
HP:0002072HP:0002072Chorea0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0002072HP:0002072Chorea0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0002072HP:0002072Chorea0MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3
HP:0002072HP:0002072Chorea0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002072HP:0002072Chorea0MICU1 CL E G H103671530ORPHA:401768Proximal myopathy with extrapyramidal signsHP:0040282 - Frequent14
HP:0002072HP:0002072Chorea0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002072HP:0002072Chorea0MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0002072HP:0002072Chorea0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0002072HP:0002072Chorea0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0002072HP:0002072Chorea0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0002072HP:0002072Chorea0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0002072HP:0002072Chorea0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive.
HP:0002072HP:0002072Chorea0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency14
HP:0002072HP:0002072Chorea0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiency14
HP:0002072HP:0002072Chorea0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
HP:0002072HP:0002072Chorea0ND1 CL E G H45357455ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0ND2 CL E G H45367456ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0ND3 CL E G H45377458ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0ND4 CL E G H45387459ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0ND5 CL E G H45407461ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0ND6 CL E G H45417462ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 127
HP:0002072HP:0002072Chorea0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 283
HP:0002072HP:0002072Chorea0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 2627
HP:0002072HP:0002072Chorea0NDUFAF3 CL E G H2591529918ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional31
HP:0002072HP:0002072Chorea0NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0002072HP:0002072Chorea0NDUFB8 CL E G H47147703ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional
HP:0002072HP:0002072Chorea0NDUFS2 CL E G H47207708ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional65
HP:0002072HP:0002072Chorea0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0002072HP:0002072Chorea0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0002072HP:0002072Chorea0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0002072HP:0002072Chorea0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040282 - Frequent51
HP:0002072HP:0002072Chorea0NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary.51
HP:0002072HP:0002072Chorea0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0002072HP:0002072Chorea0NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosis7
HP:0002072HP:0002072Chorea0NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile7
HP:0002072HP:0002072Chorea0OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3163
HP:0002072HP:0002072Chorea0OPA3 CL E G H802078142OMIM:2585013-methylglutaconic aciduria, type III.163
HP:0002072HP:0002072Chorea0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040283 - Occasional55
HP:0002072HP:0002072Chorea0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 155
HP:0002072HP:0002072Chorea0PDE10A CL E G H108468772ORPHA:494541Childhood-onset benign chorea with striatal involvementHP:0040281 - Very frequent5
HP:0002072HP:0002072Chorea0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset5
HP:0002072HP:0002072Chorea0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0002072HP:0002072Chorea0PDE10A CL E G H108468772OMIM:616922Striatal degeneration, autosomal dominant 25
HP:0002072HP:0002072Chorea0PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0002072HP:0002072Chorea0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0002072HP:0002072Chorea0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0002072HP:0002072Chorea0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0002072HP:0002072Chorea0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency88
HP:0002072HP:0002072Chorea0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0002072HP:0002072Chorea0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0002072HP:0002072Chorea0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0002072HP:0002072Chorea0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0002072HP:0002072Chorea0PITX3 CL E G H53099006OMIM:610623Cataract 11, multiple types.6
HP:0002072HP:0002072Chorea0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0002072HP:0002072Chorea0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002072HP:0002072Chorea0PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent66
HP:0002072HP:0002072Chorea0PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0002072HP:0002072Chorea0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0002072HP:0002072Chorea0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 1360
HP:0002072HP:0002072Chorea0PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0002072HP:0002072Chorea0POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndrome464
HP:0002072HP:0002072Chorea0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002072HP:0002072Chorea0PRNP CL E G H56219449OMIM:603218Huntington disease-like 1.69
HP:0002072HP:0002072Chorea0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040281 - Very frequent69
HP:0002072HP:0002072Chorea0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040283 - Occasional69
HP:0002072HP:0002072Chorea0PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis94
HP:0002072HP:0002072Chorea0PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 194
HP:0002072HP:0002072Chorea0PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent94
HP:0002072HP:0002072Chorea0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040283 - Occasional94
HP:0002072HP:0002072Chorea0PRRT2 CL E G H11247630500ORPHA:98809Paroxysmal kinesigenic dyskinesiaHP:0040281 - Very frequent94
HP:0002072HP:0002072Chorea0PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent94
HP:0002072HP:0002072Chorea0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0002072HP:0002072Chorea0PSMC1 CL E G H57009547OMIM:6200711
HP:0002072HP:0002072Chorea0PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0002072HP:0002072Chorea0PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A19
HP:0002072HP:0002072Chorea0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0002072HP:0002072Chorea0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C43
HP:0002072HP:0002072Chorea0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0002072HP:0002072Chorea0SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0002072HP:0002072Chorea0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0002072HP:0002072Chorea0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0002072HP:0002072Chorea0SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent357
HP:0002072HP:0002072Chorea0SCO2 CL E G H999710604ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional40
HP:0002072HP:0002072Chorea0SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 266
HP:0002072HP:0002072Chorea0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0002072HP:0002072Chorea0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0002072HP:0002072Chorea0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0002072HP:0002072Chorea0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0002072HP:0002072Chorea0SHQ1 CL E G H5516425543OMIM:619922
HP:0002072HP:0002072Chorea0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional6
HP:0002072HP:0002072Chorea0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0002072HP:0002072Chorea0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0002072HP:0002072Chorea0SLC19A3 CL E G H8070416266OMIM:607483Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)110
HP:0002072HP:0002072Chorea0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0002072HP:0002072Chorea0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0002072HP:0002072Chorea0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0002072HP:0002072Chorea0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1
HP:0002072HP:0002072Chorea0SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0002072HP:0002072Chorea0SLC2A1 CL E G H651311005OMIM:601042Dystonia 9255
HP:0002072HP:0002072Chorea0SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1255
HP:0002072HP:0002072Chorea0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2255
HP:0002072HP:0002072Chorea0SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity255
HP:0002072HP:0002072Chorea0SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040283 - Occasional255
HP:0002072HP:0002072Chorea0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040281 - Very frequent1
HP:0002072HP:0002072Chorea0SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome1
HP:0002072HP:0002072Chorea0SLC6A3 CL E G H653111049ORPHA:238455Infantile dystonia-parkinsonismHP:0040282 - Frequent13
HP:0002072HP:0002072Chorea0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0002072HP:0002072Chorea0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0002072HP:0002072Chorea0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional287
HP:0002072HP:0002072Chorea0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002072HP:0002072Chorea0SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency28
HP:0002072HP:0002072Chorea0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0002072HP:0002072Chorea0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040283 - Occasional54
HP:0002072HP:0002072Chorea0ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome47
HP:0002072HP:0002072Chorea0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0002072HP:0002072Chorea0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0002072HP:0002072Chorea0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0002072HP:0002072Chorea0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0002072HP:0002072Chorea0SURF1 CL E G H683411474ORPHA:70474Leigh syndrome with cardiomyopathyHP:0040283 - Occasional73
HP:0002072HP:0002072Chorea0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome1
HP:0002072HP:0002072Chorea0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0002072HP:0002072Chorea0TAF1 CL E G H687211535OMIM:314250Dystonia 3, torsion, X-linked.21
HP:0002072HP:0002072Chorea0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040282 - Frequent21
HP:0002072HP:0002072Chorea0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0002072HP:0002072Chorea0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0002072HP:0002072Chorea0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0002072HP:0002072Chorea0TLR7 CL E G H5128415631OMIM:301080
HP:0002072HP:0002072Chorea0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0002072HP:0002072Chorea0TNFAIP3 CL E G H712811896OMIM:616744AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL26
HP:0002072HP:0002072Chorea0TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002072HP:0002072Chorea0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002072HP:0002072Chorea0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27
HP:0002072HP:0002072Chorea0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18.27
HP:0002072HP:0002072Chorea0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040283 - Occasional27
HP:0002072HP:0002072Chorea0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040282 - Frequent31
HP:0002072HP:0002072Chorea0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0002072HP:0002072Chorea0TRNK CL E G H45667489ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0TRNL1 CL E G H45677490ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0TRNV CL E G H45777500ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0TRNW CL E G H45787501ORPHA:255210Mitochondrial DNA-associated Leigh syndromeHP:0040282 - Frequent
HP:0002072HP:0002072Chorea0TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 23
HP:0002072HP:0002072Chorea0TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 284
HP:0002072HP:0002072Chorea0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0002072HP:0002072Chorea0TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 257
HP:0002072HP:0002072Chorea0TSEN34 CL E G H7904215506OMIM:612390PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C57
HP:0002072HP:0002072Chorea0TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2102
HP:0002072HP:0002072Chorea0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A102
HP:0002072HP:0002072Chorea0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 666
HP:0002072HP:0002072Chorea0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040282 - Frequent22
HP:0002072HP:0002072Chorea0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0002072HP:0002072Chorea0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0002072HP:0002072Chorea0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0002072HP:0002072Chorea0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0002072HP:0002072Chorea0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040281 - Very frequent130
HP:0002072HP:0002072Chorea0VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0002072HP:0002072Chorea0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0002072HP:0002072Chorea0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0002072HP:0002072Chorea0XK CL E G H750412811OMIM:300842Mcleod syndrome8
HP:0002072HP:0002072Chorea0XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A34
HP:0002072HP:0002072Chorea0XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 64
HP:0002072HP:0002072Chorea0ZNF142 CL E G H770112927OMIM:618425Neurodevelopmental disorder with impaired speech and hyperkinetic movements.
HP:0002072HP:0001266Choreoathetosis1ABHD16A CL E G H792013921OMIM:619735SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE; SPG86
HP:0002072HP:0001266Choreoathetosis1ADAR CL E G H103225ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent116
HP:0002072HP:0001266Choreoathetosis1ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0002072HP:0001266Choreoathetosis1AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome.13
HP:0002072HP:0001266Choreoathetosis1ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1.166
HP:0002072HP:0001266Choreoathetosis1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002072HP:0001266Choreoathetosis1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002072HP:0001266Choreoathetosis1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0002072HP:0001266Choreoathetosis1ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0002072HP:0001266Choreoathetosis1ATN1 CL E G H18223033OMIM:125370Dentatorubral-Pallidoluysian atrophy naito-oyanagi disease haw river syndrome ataxia, chorea, seizures, and dementia.16
HP:0002072HP:0001266Choreoathetosis1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional239
HP:0002072HP:0001266Choreoathetosis1ATP1A2 CL E G H477800OMIM:104290Alternating hemiplegia of childhood 1.239
HP:0002072HP:0001266Choreoathetosis1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional150
HP:0002072HP:0001266Choreoathetosis1ATP1A3 CL E G H478801OMIM:614820Alternating hemiplegia of childhood 2.150
HP:0002072HP:0001266Choreoathetosis1ATP6 CL E G H45087414ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent
HP:0002072HP:0001266Choreoathetosis1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional449
HP:0002072HP:0001266Choreoathetosis1CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements.5
HP:0002072HP:0001266Choreoathetosis1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0002072HP:0001266Choreoathetosis1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0002072HP:0001266Choreoathetosis1CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0002072HP:0001266Choreoathetosis1CHKA CL E G H11191937OMIM:620023
HP:0002072HP:0001266Choreoathetosis1CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0002072HP:0001266Choreoathetosis1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0002072HP:0001266Choreoathetosis1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0002072HP:0001266Choreoathetosis1DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0002072HP:0001266Choreoathetosis1DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0002072HP:0001266Choreoathetosis1DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency.43
HP:0002072HP:0001266Choreoathetosis1DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0002072HP:0001266Choreoathetosis1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002072HP:0001266Choreoathetosis1EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002072HP:0001266Choreoathetosis1ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 58.6
HP:0002072HP:0001266Choreoathetosis1ERCC2 CL E G H20683434OMIM:278730Xeroderma pigmentosum, complementation group D.106
HP:0002072HP:0001266Choreoathetosis1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0002072HP:0001266Choreoathetosis1FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)HP:0040283 - Occasional384
HP:0002072HP:0001266Choreoathetosis1FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002072HP:0001266Choreoathetosis1FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0002072HP:0001266Choreoathetosis1FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0002072HP:0001266Choreoathetosis1GCDH CL E G H26394189OMIM:231670Glutaric acidemia I.115
HP:0002072HP:0001266Choreoathetosis1GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B.86
HP:0002072HP:0001266Choreoathetosis1GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002072HP:0001266Choreoathetosis1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0002072HP:0001266Choreoathetosis1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0002072HP:0001266Choreoathetosis1GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002072HP:0001266Choreoathetosis1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002072HP:0001266Choreoathetosis1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0002072HP:0001266Choreoathetosis1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0002072HP:0001266Choreoathetosis1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0002072HP:0001266Choreoathetosis1GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0002072HP:0001266Choreoathetosis1HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0002072HP:0001266Choreoathetosis1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0002072HP:0001266Choreoathetosis1HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0002072HP:0001266Choreoathetosis1HSPD1 CL E G H33295261OMIM:612233Leukodystrophy, hypomyelinating, 4.46
HP:0002072HP:0001266Choreoathetosis1IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0002072HP:0001266Choreoathetosis1IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0002072HP:0001266Choreoathetosis1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0002072HP:0001266Choreoathetosis1KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0002072HP:0001266Choreoathetosis1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002072HP:0001266Choreoathetosis1MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0002072HP:0001266Choreoathetosis1MICOS13 CL E G H12598833702ORPHA:670473-methylglutaconic aciduria type 3HP:0040281 - Very frequent
HP:0002072HP:0001266Choreoathetosis1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0002072HP:0001266Choreoathetosis1MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0002072HP:0001266Choreoathetosis1MMUT CL E G H45947526ORPHA:289916Vitamin B12-unresponsive methylmalonic acidemia type mut0HP:0040283 - Occasional
HP:0002072HP:0001266Choreoathetosis1MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0002072HP:0001266Choreoathetosis1NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0002072HP:0001266Choreoathetosis1NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0002072HP:0001266Choreoathetosis1NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 12.7
HP:0002072HP:0001266Choreoathetosis1NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0002072HP:0001266Choreoathetosis1NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0002072HP:0001266Choreoathetosis1NDUFAF5 CL E G H7913315899OMIM:618238Mitochondrial complex I deficiency, nuclear type 1634
HP:0002072HP:0001266Choreoathetosis1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0002072HP:0001266Choreoathetosis1NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040282 - Frequent51
HP:0002072HP:0001266Choreoathetosis1NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress51
HP:0002072HP:0001266Choreoathetosis1NUP62 CL E G H236368066ORPHA:225154Familial infantile bilateral striatal necrosisHP:0040282 - Frequent7
HP:0002072HP:0001266Choreoathetosis1NUP62 CL E G H236368066OMIM:271930Striatonigral degeneration, infantile.7
HP:0002072HP:0001266Choreoathetosis1OPA3 CL E G H802078142ORPHA:670473-methylglutaconic aciduria type 3HP:0040281 - Very frequent163
HP:0002072HP:0001266Choreoathetosis1PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002072HP:0001266Choreoathetosis1PDE2A CL E G H51388777ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent
HP:0002072HP:0001266Choreoathetosis1PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0002072HP:0001266Choreoathetosis1PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1HP:0040282 - Frequent37
HP:0002072HP:0001266Choreoathetosis1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0002072HP:0001266Choreoathetosis1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002072HP:0001266Choreoathetosis1PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional11
HP:0002072HP:0001266Choreoathetosis1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0002072HP:0001266Choreoathetosis1PNKD CL E G H259539153ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent66
HP:0002072HP:0001266Choreoathetosis1PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 166
HP:0002072HP:0001266Choreoathetosis1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0002072HP:0001266Choreoathetosis1PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040282 - Frequent60
HP:0002072HP:0001266Choreoathetosis1PNPT1 CL E G H8717823166OMIM:614932Combined oxidative phosphorylation deficiency 1360
HP:0002072HP:0001266Choreoathetosis1POLG CL E G H54289179ORPHA:726Alpers-Huttenlocher syndromeHP:0040282 - Frequent464
HP:0002072HP:0001266Choreoathetosis1POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0002072HP:0001266Choreoathetosis1PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis94
HP:0002072HP:0001266Choreoathetosis1PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 194
HP:0002072HP:0001266Choreoathetosis1PRRT2 CL E G H11247630500ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent94
HP:0002072HP:0001266Choreoathetosis1PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040281 - Very frequent94
HP:0002072HP:0001266Choreoathetosis1PRRT2 CL E G H11247630500ORPHA:98810Paroxysmal non-kinesigenic dyskinesiaHP:0040282 - Frequent94
HP:0002072HP:0001266Choreoathetosis1PTS CL E G H58059689ORPHA:136-pyruvoyl-tetrahydropterin synthase deficiencyHP:0040283 - Occasional19
HP:0002072HP:0001266Choreoathetosis1PTS CL E G H58059689OMIM:261640Hyperphenylalaninemia, BH4-deficient, A.19
HP:0002072HP:0001266Choreoathetosis1QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0002072HP:0001266Choreoathetosis1SCN1A CL E G H632310585OMIM:619317DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B1053
HP:0002072HP:0001266Choreoathetosis1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0002072HP:0001266Choreoathetosis1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0002072HP:0001266Choreoathetosis1SCN8A CL E G H633410596ORPHA:31709Infantile convulsions and choreoathetosisHP:0040282 - Frequent357
HP:0002072HP:0001266Choreoathetosis1SEPSECS CL E G H5109130605ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent66
HP:0002072HP:0001266Choreoathetosis1SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040283 - Occasional162
HP:0002072HP:0001266Choreoathetosis1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0002072HP:0001266Choreoathetosis1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0002072HP:0001266Choreoathetosis1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0002072HP:0001266Choreoathetosis1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040283 - Occasional63
HP:0002072HP:0001266Choreoathetosis1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002072HP:0001266Choreoathetosis1SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0002072HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005ORPHA:71277Classic glucose transporter type 1 deficiency syndromeHP:0040282 - Frequent255
HP:0002072HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005OMIM:601042Dystonia 9.255
HP:0002072HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005OMIM:606777Glut1 deficiency syndrome 1.255
HP:0002072HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0002072HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005ORPHA:53583Paroxysmal dystonic choreathetosis with episodic ataxia and spasticityHP:0040282 - Frequent255
HP:0002072HP:0001266Choreoathetosis1SLC2A1 CL E G H651311005ORPHA:98811Paroxysmal exertion-induced dyskinesiaHP:0040281 - Very frequent255
HP:0002072HP:0001266Choreoathetosis1SLC30A9 CL E G H104631329OMIM:617595Birk-Landau-Perez syndrome.1
HP:0002072HP:0001266Choreoathetosis1SPR CL E G H669711257OMIM:612716Dystonia, dopa-responsive, due to sepiapterin reductase deficiency.28
HP:0002072HP:0001266Choreoathetosis1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0002072HP:0001266Choreoathetosis1ST3GAL5 CL E G H886910872OMIM:609056Salt and pepper developmental regression syndrome.47
HP:0002072HP:0001266Choreoathetosis1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0002072HP:0001266Choreoathetosis1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0002072HP:0001266Choreoathetosis1SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA.40
HP:0002072HP:0001266Choreoathetosis1SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0002072HP:0001266Choreoathetosis1SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0002072HP:0001266Choreoathetosis1TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0002072HP:0001266Choreoathetosis1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0002072HP:0001266Choreoathetosis1TNR CL E G H714311953OMIM:619653NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS; NEDSTO7
HP:0002072HP:0001266Choreoathetosis1TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0002072HP:0001266Choreoathetosis1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0002072HP:0001266Choreoathetosis1TSEN15 CL E G H11646116791ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent3
HP:0002072HP:0001266Choreoathetosis1TSEN2 CL E G H8074628422ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent84
HP:0002072HP:0001266Choreoathetosis1TSEN34 CL E G H7904215506ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent57
HP:0002072HP:0001266Choreoathetosis1TSEN54 CL E G H28398927561ORPHA:2524Pontocerebellar hypoplasia type 2HP:0040281 - Very frequent102
HP:0002072HP:0001266Choreoathetosis1TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0002072HP:0001266Choreoathetosis1VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS130
HP:0002072HP:0001266Choreoathetosis1XPA CL E G H750712814OMIM:278700Xeroderma pigmentosum, complementation group A.34
HP:0002072HP:0001266Choreoathetosis1XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 6.4
HP:0002072HP:0007098Paroxysmal choreoathetosis2PNKD CL E G H259539153OMIM:118800Paroxysmal nonkinesigenic dyskinesia 1.66
HP:0002072HP:0007098Paroxysmal choreoathetosis2PRRT2 CL E G H11247630500OMIM:602066Convulsions, familial infantile, with paroxysmal choreoathetosis.94
HP:0002072HP:0007098Paroxysmal choreoathetosis2PRRT2 CL E G H11247630500OMIM:128200Episodic kinesigenic dyskinesia 1.94
HP:0002072HP:0007326Progressive choreoathetosis2VPS13A CL E G H232301908OMIM:200150CHOREOACANTHOCYTOSIS.130


Genes (212) :AARS1 ABHD16A ACAT2 ACP5 ADA2 ADAR ADCY5 ALS2 AP1S2 AP2M1 APTX ARSA ARX ATG7 ATM ATN1 ATP1A2 ATP1A3 ATP5MK ATP6 ATP7A ATXN1 ATXN2 ATXN7 C9ORF72 CACNA1A CACNA1B CACNA2D2 CARS2 CASK CDKL5 CERS1 CHKA CHMP1A CIC CLCN4 CLPB COX20 CP CTDP1 DCAF17 DDC DHX30 DLAT DMXL2 DPYSL5 DYSF EIF2AK2 ELP2 ERCC2 ERCC6 FBXL4 FBXO28 FOXG1 FRRS1L FTL FUS FXN GABRA2 GAMT GCDH GCH1 GJC2 GLYCTK GM2A GNAO1 GNAS GON7 GPR88 GRIA2 GRIA4 GRIK2 GRIN1 GRIN2B GRM7 GTPBP2 GUF1 HCFC1 HPRT1 HSD17B10 HSPD1 HTT IREB2 IRF2BPL JPH3 KCNA1 KCNMA1 KCNN2 KIF1C KIF5A LRPPRC MECP2 MECR MED23 MICOS13 MICU1 MMUT MRE11 MRM2 MRPS34 MYORG NADK2 NAXD ND1 ND2 ND3 ND4 ND5 ND6 NDUFA1 NDUFA13 NDUFA9 NDUFAF3 NDUFAF5 NDUFB8 NDUFS2 NEUROD2 NGLY1 NKX2-1 NUP62 OPA3 PANK2 PDE10A PDE2A PDGFB PDGFRB PDHA1 PIGN PIGP PIGQ PIK3R5 PITX3 PLA2G6 PLP1 PNKD PNKP PNPT1 POLG POU3F3 PRNP PRRT2 PSAP PSMC1 PTS PUM1 QDPR RHOBTB2 SCN1A SCN1B SCN2A SCN8A SCO2 SEPSECS SETX SH2B1 SHQ1 SIGMAR1 SIK1 SLC16A2 SLC19A3 SLC1A3 SLC20A2 SLC25A22 SLC25A42 SLC2A1 SLC2A3 SLC30A9 SLC6A3 SLC6A8 SPG11 SPOP SPR SPTBN4 SPTLC1 ST3GAL5 STUB1 STXBP1 SUCLG1 SUOX SURF1 SYT1 TAF1 TBP TIMM50 TLR7 TMEM106B TNFAIP3 TNR TOE1 TRAPPC11 TREM2 TRIM8 TRNK TRNL1 TRNV TRNW TSEN15 TSEN2 TSEN34 TSEN54 TUBB4A TYROBP UBTF UGDH VAMP2 VPS13A VPS4A WARS2 XK XPA XPR1 ZNF142

Diseases (226) :OMIM:616339 OMIM:619735 OMIM:614055 ORPHA:1855 ORPHA:820 ORPHA:225154 OMIM:606703 ORPHA:324588 ORPHA:300605 OMIM:304340 OMIM:618587 OMIM:208920 OMIM:250100 ORPHA:309271 OMIM:308350 ORPHA:1934 OMIM:619422 OMIM:208900 ORPHA:101 OMIM:125370 ORPHA:2131 OMIM:104290 OMIM:614820 OMIM:618683 ORPHA:255210 ORPHA:565 OMIM:164400 ORPHA:98755 ORPHA:98756 OMIM:164500 ORPHA:401901 OMIM:618497 OMIM:618501 OMIM:616672 OMIM:616230 OMIM:620023 OMIM:614961 OMIM:617600 ORPHA:485350 ORPHA:445038 OMIM:616271 OMIM:619054 ORPHA:48818 OMIM:604290 OMIM:604168 ORPHA:3464 OMIM:241080 OMIM:608643 OMIM:617804 OMIM:245348 OMIM:619435 ORPHA:268 OMIM:618877 OMIM:617270 OMIM:278730 OMIM:278800 OMIM:615471 OMIM:619777 OMIM:613454 OMIM:616981 OMIM:606159 ORPHA:157846 ORPHA:95 OMIM:618557 ORPHA:382 OMIM:231670 ORPHA:25 OMIM:233910 OMIM:608804 ORPHA:941 ORPHA:309246 OMIM:272750 OMIM:615473 OMIM:617493 ORPHA:79443 OMIM:619603 OMIM:616939 OMIM:618917 OMIM:617864 OMIM:619580 OMIM:614254 OMIM:616139 OMIM:613970 OMIM:617988 OMIM:617065 OMIM:309541 OMIM:300322 ORPHA:391428 OMIM:300438 OMIM:612233 OMIM:143100 ORPHA:399 ORPHA:248111 OMIM:618451 OMIM:618088 OMIM:606438 ORPHA:98934 ORPHA:37612 ORPHA:98809 ORPHA:79137 OMIM:619725 ORPHA:397946 OMIM:617235 ORPHA:70472 OMIM:300260 OMIM:300055 OMIM:617282 ORPHA:508093 OMIM:614249 ORPHA:67047 OMIM:615673 ORPHA:401768 ORPHA:79312 ORPHA:289916 ORPHA:251347 OMIM:604391 OMIM:618567 OMIM:617664 OMIM:618317 OMIM:616034 ORPHA:431361 OMIM:618321 OMIM:301020 OMIM:618249 OMIM:618247 ORPHA:70474 OMIM:618238 ORPHA:404454 OMIM:615273 ORPHA:209905 OMIM:118700 OMIM:610978 OMIM:271930 OMIM:258501 ORPHA:216873 OMIM:234200 ORPHA:494541 OMIM:616921 ORPHA:494526 OMIM:616922 ORPHA:31709 OMIM:619150 OMIM:213600 OMIM:615483 OMIM:312170 OMIM:614080 ORPHA:64753 OMIM:610623 OMIM:610217 OMIM:312080 ORPHA:98810 OMIM:118800 ORPHA:319514 OMIM:614932 ORPHA:726 OMIM:618604 OMIM:603218 ORPHA:157941 ORPHA:282166 OMIM:602066 OMIM:128200 ORPHA:98811 OMIM:620071 ORPHA:13 OMIM:261640 OMIM:617931 OMIM:261630 OMIM:618004 OMIM:619317 ORPHA:2524 OMIM:613811 OMIM:606002 ORPHA:261197 OMIM:619922 ORPHA:59 OMIM:607483 OMIM:618416 ORPHA:71277 OMIM:601042 OMIM:606777 OMIM:612126 ORPHA:53583 OMIM:617595 ORPHA:238455 OMIM:613135 ORPHA:52503 OMIM:618829 OMIM:612716 OMIM:617519 OMIM:609056 OMIM:618093 OMIM:612164 ORPHA:17 OMIM:272300 OMIM:618218 ORPHA:522077 OMIM:314250 ORPHA:53351 OMIM:607136 ORPHA:98759 OMIM:617698 OMIM:301080 OMIM:617964 OMIM:616744 OMIM:619653 OMIM:614969 ORPHA:369847 OMIM:615356 ORPHA:369840 ORPHA:2770 OMIM:612389 OMIM:612390 OMIM:277470 OMIM:612438 ORPHA:500180 OMIM:617672 OMIM:618792 OMIM:618760 ORPHA:2388 OMIM:200150 OMIM:619273 OMIM:619738 OMIM:300842 OMIM:278700 OMIM:616413 OMIM:618425
 

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