Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Dystonia (HP:0001332)help
..Starting node
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Limb dystonia (HP:0002451)help
Term ID: 2451
Name: Limb dystonia
Synonym:
Definition: A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Comments:
Reference: HP:0002451
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAxial dystonia (HP:0002530) help
..expandFocal dystonia (HP:0004373) help
..expandGeneralized dystonia (HP:0007325) help
..expandOculogyric crisis (HP:0010553) help
..expandParoxysmal dystonia (HP:0002268) help
..expandTorsion dystonia (HP:0001304) 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:0002451HP:0002451Limb dystonia0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29
HP:0002451HP:0002451Limb dystonia0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0002451HP:0002451Limb dystonia0AFG3L2 CL E G H10939315ORPHA:101109Spinocerebellar ataxia type 28HP:0040284 - Very rare86
HP:0002451HP:0002451Limb dystonia0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002451HP:0002451Limb dystonia0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0002451HP:0002451Limb dystonia0ANO3 CL E G H6398214004ORPHA:420485Cranio-cervical dystonia with laryngeal and upper-limb involvementHP:0040282 - Frequent17
HP:0002451HP:0002451Limb dystonia0ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0002451HP:0002451Limb dystonia0AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0002451HP:0002451Limb dystonia0ARX CL E G H17030218060OMIM:309510Partington syndrome.166
HP:0002451HP:0002451Limb dystonia0ARX CL E G H17030218060ORPHA:94083Partington syndromeHP:0040281 - Very frequent166
HP:0002451HP:0002451Limb dystonia0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0002451HP:0002451Limb dystonia0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0002451HP:0002451Limb dystonia0ATP7B CL E G H540870OMIM:277900Wilson disease315
HP:0002451HP:0002451Limb dystonia0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0002451HP:0002451Limb dystonia0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0002451HP:0002451Limb dystonia0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional200
HP:0002451HP:0002451Limb dystonia0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0002451HP:0002451Limb dystonia0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0002451HP:0002451Limb dystonia0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040282 - Frequent7
HP:0002451HP:0002451Limb dystonia0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0002451HP:0002451Limb dystonia0COL6A3 CL E G H12932213OMIM:616411Dystonia 27702
HP:0002451HP:0002451Limb dystonia0COL6A3 CL E G H12932213ORPHA:464440Primary dystonia, DYT27 typeHP:0040282 - Frequent702
HP:0002451HP:0002451Limb dystonia0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0002451HP:0002451Limb dystonia0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0002451HP:0002451Limb dystonia0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0002451HP:0002451Limb dystonia0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0002451HP:0002451Limb dystonia0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0002451HP:0002451Limb dystonia0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional22
HP:0002451HP:0002451Limb dystonia0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0002451HP:0002451Limb dystonia0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0002451HP:0002451Limb dystonia0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiency82
HP:0002451HP:0002451Limb dystonia0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0002451HP:0002451Limb dystonia0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional3
HP:0002451HP:0002451Limb dystonia0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0002451HP:0002451Limb dystonia0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0002451HP:0002451Limb dystonia0DTYMK CL E G H18413061OMIM:619847
HP:0002451HP:0002451Limb dystonia0EIF2AK2 CL E G H56109437OMIM:619687DYSTONIA 33; DYT33
HP:0002451HP:0002451Limb dystonia0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0002451HP:0002451Limb dystonia0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional17
HP:0002451HP:0002451Limb dystonia0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0002451HP:0002451Limb dystonia0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0002451HP:0002451Limb dystonia0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional172
HP:0002451HP:0002451Limb dystonia0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0002451HP:0002451Limb dystonia0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0002451HP:0002451Limb dystonia0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0002451HP:0002451Limb dystonia0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional48
HP:0002451HP:0002451Limb dystonia0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0002451HP:0002451Limb dystonia0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0002451HP:0002451Limb dystonia0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0002451HP:0002451Limb dystonia0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0002451HP:0002451Limb dystonia0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0002451HP:0002451Limb dystonia0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional2
HP:0002451HP:0002451Limb dystonia0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0002451HP:0002451Limb dystonia0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0002451HP:0002451Limb dystonia0GCDH CL E G H26394189ORPHA:25Glutaryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional115
HP:0002451HP:0002451Limb dystonia0GCH1 CL E G H26434193ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent86
HP:0002451HP:0002451Limb dystonia0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0002451HP:0002451Limb dystonia0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0002451HP:0002451Limb dystonia0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional173
HP:0002451HP:0002451Limb dystonia0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0002451HP:0002451Limb dystonia0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0002451HP:0002451Limb dystonia0GNAL CL E G H27744388ORPHA:329466Autosomal dominant focal dystonia, DYT25 typeHP:0040282 - Frequent13
HP:0002451HP:0002451Limb dystonia0GNAL CL E G H27744388OMIM:615073Dystonia 25.13
HP:0002451HP:0002451Limb dystonia0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0002451HP:0002451Limb dystonia0HPCA CL E G H32085144ORPHA:99657Primary dystonia, DYT2 typeHP:0040282 - Frequent4
HP:0002451HP:0002451Limb dystonia0IMPDH2 CL E G H36156053ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent1
HP:0002451HP:0002451Limb dystonia0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002451HP:0002451Limb dystonia0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0002451HP:0002451Limb dystonia0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0002451HP:0002451Limb dystonia0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0002451HP:0002451Limb dystonia0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy2
HP:0002451HP:0002451Limb dystonia0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0002451HP:0002451Limb dystonia0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional45
HP:0002451HP:0002451Limb dystonia0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0002451HP:0002451Limb dystonia0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0002451HP:0002451Limb dystonia0NR4A2 CL E G H49297981ORPHA:98808Autosomal dominant dopa-responsive dystoniaHP:0040282 - Frequent27
HP:0002451HP:0002451Limb dystonia0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0002451HP:0002451Limb dystonia0PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0002451HP:0002451Limb dystonia0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0002451HP:0002451Limb dystonia0PNPT1 CL E G H8717823166ORPHA:319514Combined oxidative phosphorylation defect type 13HP:0040282 - Frequent60
HP:0002451HP:0002451Limb dystonia0PRKRA CL E G H85759438OMIM:612067Dystonia 16.37
HP:0002451HP:0002451Limb dystonia0PRKRA CL E G H85759438ORPHA:210571Dystonia 16HP:0040281 - Very frequent37
HP:0002451HP:0002451Limb dystonia0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0002451HP:0002451Limb dystonia0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional665
HP:0002451HP:0002451Limb dystonia0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0002451HP:0002451Limb dystonia0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0002451HP:0002451Limb dystonia0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0002451HP:0002451Limb dystonia0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0002451HP:0002451Limb dystonia0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional67
HP:0002451HP:0002451Limb dystonia0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0002451HP:0002451Limb dystonia0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0002451HP:0002451Limb dystonia0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0002451HP:0002451Limb dystonia0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002451HP:0002451Limb dystonia0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0002451HP:0002451Limb dystonia0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002451HP:0002451Limb dystonia0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002451HP:0002451Limb dystonia0SLC18A2 CL E G H657110935ORPHA:352649Brain dopamine-serotonin vesicular transport diseaseHP:0040281 - Very frequent2
HP:0002451HP:0002451Limb dystonia0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 25
HP:0002451HP:0002451Limb dystonia0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0002451HP:0002451Limb dystonia0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0002451HP:0002451Limb dystonia0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040284 - Very rare19
HP:0002451HP:0002451Limb dystonia0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0002451HP:0002451Limb dystonia0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0002451HP:0002451Limb dystonia0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002451HP:0002451Limb dystonia0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002451HP:0002451Limb dystonia0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0002451HP:0002451Limb dystonia0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional99
HP:0002451HP:0002451Limb dystonia0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0002451HP:0002451Limb dystonia0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0002451HP:0002451Limb dystonia0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce type1129
HP:0002451HP:0002451Limb dystonia0TAF1 CL E G H687211535ORPHA:53351X-linked dystonia-parkinsonismHP:0040283 - Occasional21
HP:0002451HP:0002451Limb dystonia0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0002451HP:0002451Limb dystonia0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional1
HP:0002451HP:0002451Limb dystonia0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0002451HP:0002451Limb dystonia0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0002451HP:0002451Limb dystonia0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0002451HP:0002451Limb dystonia0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional32
HP:0002451HP:0002451Limb dystonia0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0002451HP:0002451Limb dystonia0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0002451HP:0002451Limb dystonia0TH CL E G H705411782ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent80
HP:0002451HP:0002451Limb dystonia0TH CL E G H705411782OMIM:605407Segawa syndrome, autosomal recessive.80
HP:0002451HP:0002451Limb dystonia0THAP1 CL E G H5514520856OMIM:602629Dystonia 6, torsion.42
HP:0002451HP:0002451Limb dystonia0THAP1 CL E G H5514520856ORPHA:98806Primary dystonia, DYT6 typeHP:0040284 - Very rare42
HP:0002451HP:0002451Limb dystonia0TSPOAP1 CL E G H925616831ORPHA:101150Autosomal recessive dopa-responsive dystoniaHP:0040282 - Frequent2
HP:0002451HP:0002451Limb dystonia0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant.66
HP:0002451HP:0002451Limb dystonia0VPS11 CL E G H5582314583OMIM:619637DYSTONIA 32; DYT321
HP:0002451HP:0002451Limb dystonia0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0002451HP:0002451Limb dystonia0VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0002451HP:0002451Limb dystonia0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0002451HP:0002451Limb dystonia0VPS37A CL E G H13749224928ORPHA:319199Autosomal recessive spastic paraplegia type 53HP:0040283 - Occasional7
HP:0002451HP:0002451Limb dystonia0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0002451HP:0002451Limb dystonia0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0002451HP:0002451Limb dystonia0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0002451HP:0002451Limb dystonia0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040283 - Occasional34
HP:0002451HP:0002451Limb dystonia0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0002451HP:0002451Limb dystonia0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0002451HP:0031959Leg dystonia1ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0002451HP:0031960Arm dystonia1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0002451HP:0031960Arm dystonia1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent114
HP:0002451HP:0031960Arm dystonia1ANO3 CL E G H6398214004OMIM:615034Dystonia 2417
HP:0002451HP:0031960Arm dystonia1AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0002451HP:0031959Leg dystonia1AOPEP CL E G H849091361OMIM:619565DYSTONIA 31; DYT31
HP:0002451HP:0031960Arm dystonia1ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0002451HP:0031960Arm dystonia1DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0002451HP:0031960Arm dystonia1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0002451HP:0031959Leg dystonia1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040282 - Frequent33
HP:0002451HP:0031960Arm dystonia1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0002451HP:0031959Leg dystonia1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0002451HP:0031960Arm dystonia1KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0002451HP:0031959Leg dystonia1KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0002451HP:0031959Leg dystonia1PARK7 CL E G H1131516369OMIM:606324PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK723
HP:0002451HP:0031960Arm dystonia1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0002451HP:0031960Arm dystonia1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent287
HP:0002451HP:0031960Arm dystonia1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent54
HP:0002451HP:0031960Arm dystonia1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0002451HP:0031960Arm dystonia1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0002451HP:0031959Leg dystonia1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30


Genes (80) :AARS1 ACTB AFG3L2 ALS2 ANO3 AOPEP ARX ATP1A3 ATP7B BSCL2 CDON CKAP2L COL4A1 COL6A3 COX20 CYB5A CYB5R3 DDC DISP1 DLAT DLL1 DTYMK EIF2AK2 FGF8 FGFR1 FITM2 FOXH1 FTL FUS GAS1 GCDH GCH1 GFM2 GLI2 GNAL GNB1 HPCA IMPDH2 JAM2 KMT2B MAPT MECR NKX6-2 NODAL NR4A2 PANK2 PARK7 PLCH1 PNPT1 PRKRA PTCH1 SCO2 SHH SIGMAR1 SIX3 SLC18A2 SLC39A14 SLC6A3 SMC1A SPATA5 SPG11 SPTLC1 STAG2 STIL SYNE1 TAF1 TDGF1 TGIF1 TH THAP1 TSPOAP1 TUBB4A VPS11 VPS13A VPS13C VPS16 VPS37A WARS2 YIF1B ZIC2

Diseases (66) :OMIM:616339 OMIM:607371 ORPHA:101109 OMIM:205100 ORPHA:300605 ORPHA:420485 OMIM:615034 OMIM:619565 OMIM:309510 ORPHA:94083 OMIM:601338 ORPHA:71517 OMIM:277900 ORPHA:363400 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:3255 OMIM:175780 OMIM:616411 ORPHA:464440 OMIM:619054 ORPHA:621 OMIM:608643 ORPHA:79244 OMIM:619847 OMIM:619687 OMIM:618635 ORPHA:157846 ORPHA:25 ORPHA:98808 ORPHA:565624 ORPHA:329466 OMIM:615073 OMIM:616973 ORPHA:99657 OMIM:618824 ORPHA:589618 OMIM:601104 ORPHA:508093 OMIM:617560 ORPHA:216873 OMIM:606324 ORPHA:319514 OMIM:612067 ORPHA:210571 OMIM:604377 ORPHA:352649 OMIM:617013 OMIM:613135 ORPHA:457351 ORPHA:88644 ORPHA:53351 ORPHA:101150 OMIM:605407 OMIM:602629 ORPHA:98806 OMIM:128101 OMIM:619637 ORPHA:2388 OMIM:616840 OMIM:619291 ORPHA:319199 ORPHA:572798 OMIM:619125
 

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