Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | | | | | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:101109 | Spinocerebellar ataxia type 28 | HP:0040284 - Very rare | | | 86 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 114 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ANO3 CL E G H | 63982 | 14004 | ORPHA:420485 | Cranio-cervical dystonia with laryngeal and upper-limb involvement | HP:0040282 - Frequent | | | 17 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ANO3 CL E G H | 63982 | 14004 | OMIM:615034 | Dystonia 24 | | | | 17 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ARX CL E G H | 170302 | 18060 | OMIM:309510 | Partington syndrome | . | | | 166 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:94083 | Partington syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | | | | 150 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 150 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | | | | 315 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:616411 | Dystonia 27 | | | | 702 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:464440 | Primary dystonia, DYT27 type | HP:0040282 - Frequent | | | 702 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DDC CL E G H | 1644 | 2719 | OMIM:608643 | Aromatic L-amino acid decarboxylase deficiency | | | | 43 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | | | | 82 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:619687 | DYSTONIA 33; DYT33 | | | | | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 172 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FITM2 CL E G H | 128486 | 16135 | OMIM:618635 | SIDDIQI SYNDROME; SIDDIS | | | | | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | | | | 33 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 105 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 115 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GCH1 CL E G H | 2643 | 4193 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 86 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GNAL CL E G H | 2774 | 4388 | ORPHA:329466 | Autosomal dominant focal dystonia, DYT25 type | HP:0040282 - Frequent | | | 13 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GNAL CL E G H | 2774 | 4388 | OMIM:615073 | Dystonia 25 | . | | | 13 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:616973 | Mental retardation, autosomal dominant 42 | | | | 12 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | HPCA CL E G H | 3208 | 5144 | ORPHA:99657 | Primary dystonia, DYT2 type | HP:0040282 - Frequent | | | 4 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | IMPDH2 CL E G H | 3615 | 6053 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 1 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | | | | 2 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | NR4A2 CL E G H | 4929 | 7981 | ORPHA:98808 | Autosomal dominant dopa-responsive dystonia | HP:0040282 - Frequent | | | 27 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | HP:0040282 - Frequent | | | 55 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:319514 | Combined oxidative phosphorylation defect type 13 | HP:0040282 - Frequent | | | 60 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | PRKRA CL E G H | 8575 | 9438 | OMIM:612067 | Dystonia 16 | . | | | 37 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | PRKRA CL E G H | 8575 | 9438 | ORPHA:210571 | Dystonia 16 | HP:0040281 - Very frequent | | | 37 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 6 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SLC18A2 CL E G H | 6571 | 10935 | ORPHA:352649 | Brain dopamine-serotonin vesicular transport disease | HP:0040281 - Very frequent | | | 2 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | | | | 5 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SLC6A3 CL E G H | 6531 | 11049 | OMIM:613135 | Parkinsonism-Dystonia, infantile, 1 | . | | | 13 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 135 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040284 - Very rare | | | 19 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 287 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | | | | 54 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TAF1 CL E G H | 6872 | 11535 | ORPHA:53351 | X-linked dystonia-parkinsonism | HP:0040283 - Occasional | | | 21 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TH CL E G H | 7054 | 11782 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 80 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TH CL E G H | 7054 | 11782 | OMIM:605407 | Segawa syndrome, autosomal recessive | . | | | 80 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | THAP1 CL E G H | 55145 | 20856 | OMIM:602629 | Dystonia 6, torsion | . | | | 42 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | THAP1 CL E G H | 55145 | 20856 | ORPHA:98806 | Primary dystonia, DYT6 type | HP:0040284 - Very rare | | | 42 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TSPOAP1 CL E G H | 9256 | 16831 | ORPHA:101150 | Autosomal recessive dopa-responsive dystonia | HP:0040282 - Frequent | | | 2 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:128101 | Dystonia 4, torsion, autosomal dominant | . | | | 66 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:619637 | DYSTONIA 32; DYT32 | | | | 1 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | | | | 8 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | VPS37A CL E G H | 137492 | 24928 | ORPHA:319199 | Autosomal recessive spastic paraplegia type 53 | HP:0040283 - Occasional | | | 7 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040282 - Frequent | | | 2 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | YIF1B CL E G H | 90522 | 30511 | OMIM:619125 | KAYA-BARAKAT-MASSON SYNDROME; KABAMAS | | | | | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002451 | HP:0002451 | Limb dystonia | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0002451 | HP:0031959 | Leg dystonia | 1 | ACTB CL E G H | 60 | 132 | OMIM:607371 | Dystonia, juvenile-onset | | | | 72 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:205100 | Amyotrophic lateral sclerosis 2, juvenile | | | | 114 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | ALS2 CL E G H | 57679 | 443 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 114 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | ANO3 CL E G H | 63982 | 14004 | OMIM:615034 | Dystonia 24 | | | | 17 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0002451 | HP:0031959 | Leg dystonia | 1 | AOPEP CL E G H | 84909 | 1361 | OMIM:619565 | DYSTONIA 31; DYT31 | | | | | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss | | | | 150 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | DLAT CL E G H | 1737 | 2896 | ORPHA:79244 | Pyruvate dehydrogenase E2 deficiency | HP:0040282 - Frequent | | | 82 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040283 - Occasional | | | 33 | | |
HP:0002451 | HP:0031959 | Leg dystonia | 1 | FTL CL E G H | 2512 | 3999 | ORPHA:157846 | Neuroferritinopathy | HP:0040282 - Frequent | | | 33 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | FUS CL E G H | 2521 | 4010 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 105 | | |
HP:0002451 | HP:0031959 | Leg dystonia | 1 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040283 - Occasional | | | 43 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0002451 | HP:0031959 | Leg dystonia | 1 | KMT2B CL E G H | 9757 | 15840 | ORPHA:589618 | Dystonia 28 | | | | 11 | | |
HP:0002451 | HP:0031959 | Leg dystonia | 1 | PARK7 CL E G H | 11315 | 16369 | OMIM:606324 | PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7 | | | | 23 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | SIGMAR1 CL E G H | 10280 | 8157 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 6 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 287 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | SPTLC1 CL E G H | 10558 | 11277 | ORPHA:300605 | Juvenile amyotrophic lateral sclerosis | HP:0040282 - Frequent | | | 54 | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040283 - Occasional | | | 1129 | | |
HP:0002451 | HP:0031959 | Leg dystonia | 1 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0002451 | HP:0031960 | Arm dystonia | 1 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |