Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001332 | HP:0001332 | Dystonia | 0 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 338 | 21022 | 612035 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 387 | 21022 | 612035 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 27 | 16066 | 617036 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 38 | 16066 | 617036 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 133 | 7179 | 603178 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 146 | 7179 | 603178 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 226 | 568 | 607246 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP3D1 CL E G H | 8943 | 617050 | Hermansky-Pudlak syndrome 10 | 617050 | C4310746 | OMIM | 1 | | 394 | 568 | 607246 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 189 | 572 | 607245 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP4B1 CL E G H | 10717 | 280763 | | | | ORPHA | 1 | | 254 | 572 | 607245 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 189 | 572 | 607245 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 254 | 572 | 607245 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 238 | 573 | 607244 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP4E1 CL E G H | 23431 | 280763 | | | | ORPHA | 1 | | 332 | 573 | 607244 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 199 | 574 | 602296 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP4M1 CL E G H | 9179 | 280763 | | | | ORPHA | 1 | | 264 | 574 | 602296 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 89 | 575 | 607243 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AP4S1 CL E G H | 11154 | 280763 | | | | ORPHA | 1 | | 110 | 575 | 607243 |
HP:0001332 | HP:0001332 | Dystonia | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 236 | 15984 | 606350 |
HP:0001332 | HP:0001332 | Dystonia | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 258 | 15984 | 606350 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 732 | 713 | 607574 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARSA CL E G H | 410 | 309256 | | | | ORPHA | 1 | | 841 | 713 | 607574 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 732 | 713 | 607574 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARSA CL E G H | 410 | 309263 | | | | ORPHA | 1 | | 841 | 713 | 607574 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 732 | 713 | 607574 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARSA CL E G H | 410 | 309271 | | | | ORPHA | 1 | | 841 | 713 | 607574 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 732 | 713 | 607574 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 841 | 713 | 607574 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 62 | 29561 | 611647 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 65 | 29561 | 611647 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 565 | 18060 | 300382 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ARX CL E G H | 170302 | 308350 | Epileptic encephalopathy, early infantile, 1 | 308350 | C3463992 | OMIM | 1 | | 624 | 18060 | 300382 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 10320 | 795 | 607585 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 11382 | 795 | 607585 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 487 | 30213 | 610513 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP13A2 CL E G H | 23400 | 314632 | | | | ORPHA | 1 | | 609 | 30213 | 610513 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 1 | | 487 | 30213 | 610513 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP13A2 CL E G H | 23400 | 513436 | | | | ORPHA | 1 | | 609 | 30213 | 610513 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 726 | 800 | 182340 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP1A2 CL E G H | 477 | 104290 | Alternating hemiplegia of childhood 1 | 104290 | C3549447 | OMIM | 1 | | 801 | 800 | 182340 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 625 | 801 | 182350 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 687 | 801 | 182350 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 625 | 801 | 182350 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 687 | 801 | 182350 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1389 | 870 | 606882 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATP7B CL E G H | 540 | 277900 | Wilson disease | 277900 | C0019202 | OMIM | 1 | | 1579 | 870 | 606882 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 76 | 10548 | 601556 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATXN1 CL E G H | 6310 | 98755 | | | | ORPHA | 1 | | 78 | 10548 | 601556 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 50 | 10555 | 601517 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 52 | 10555 | 601517 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATXN3 CL E G H | 4287 | 276238 | | | | ORPHA | 1 | | 44 | 7106 | 607047 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATXN3 CL E G H | 4287 | 276241 | | | | ORPHA | 1 | | 44 | 7106 | 607047 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATXN3 CL E G H | 4287 | 276244 | | | | ORPHA | 1 | | 44 | 7106 | 607047 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 72 | 10561 | 603680 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 76 | 10561 | 603680 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 145 | 890 | 600529 |
HP:0001332 | HP:0001332 | Dystonia | 0 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 177 | 890 | 600529 |
HP:0001332 | HP:0001332 | Dystonia | 0 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 148 | 4117 | 601873 |
HP:0001332 | HP:0001332 | Dystonia | 0 | B4GALNT1 CL E G H | 2583 | 609195 | Spastic paraplegia 26 | 609195 | C1836632 | OMIM | 1 | | 169 | 4117 | 601873 |
HP:0001332 | HP:0001332 | Dystonia | 0 | BCAP31 CL E G H | 10134 | 300475 | Chromosome Xq28 deletion syndrome | 300475 | C1845408 | OMIM | 1 | | 282 | 16695 | 300398 |
HP:0001332 | HP:0001332 | Dystonia | 0 | BCAP31 CL E G H | 10134 | 300475 | Chromosome Xq28 deletion syndrome | 300475 | C1845408 | OMIM | 1 | | 301 | 16695 | 300398 |
HP:0001332 | HP:0001332 | Dystonia | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0001332 | HP:0001332 | Dystonia | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0001332 | HP:0001332 | Dystonia | 0 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 330 | 15832 | 606158 |
HP:0001332 | HP:0001332 | Dystonia | 0 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 373 | 15832 | 606158 |
HP:0001332 | HP:0001332 | Dystonia | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 240 | 25443 | 614297 |
HP:0001332 | HP:0001332 | Dystonia | 0 | C19orf12 CL E G H | 83636 | 289560 | | | | ORPHA | 1 | | 248 | 25443 | 614297 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CACNA1A CL E G H | 773 | 108500 | Episodic ataxia type 2 | 108500 | C1720416 | OMIM | 1 | | 2047 | 1388 | 601011 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CACNA1A CL E G H | 773 | 108500 | Episodic ataxia type 2 | 108500 | C1720416 | OMIM | 1 | | 2326 | 1388 | 601011 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 410 | 1392 | 601013 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 643 | 1392 | 601013 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 357 | 1394 | 604065 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 374 | 1394 | 604065 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 531 | 25695 | 612800 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CARS2 CL E G H | 79587 | 616672 | Combined oxidative phosphorylation deficiency 27 | 616672 | C4225251 | OMIM | 1 | | 625 | 25695 | 612800 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 110 | 24537 | 609512 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CHMP2B CL E G H | 25978 | 600795 | Frontotemporal Dementia, Chromosome 3-Linked | 600795 | C1833296 | OMIM | 1 | | 130 | 24537 | 609512 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CHRNA2 CL E G H | 1135 | 610353 | Epilepsy, nocturnal frontal lobe, type 4 | 610353 | C1835905 | OMIM | 1 | | 540 | 1956 | 118502 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CHRNA2 CL E G H | 1135 | 610353 | Epilepsy, nocturnal frontal lobe, type 4 | 610353 | C1835905 | OMIM | 1 | | 589 | 1956 | 118502 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 78 | 26877 | 616174 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CKAP2L CL E G H | 150468 | 272440 | Filippi syndrome | 272440 | C0795940 | OMIM | 1 | | 94 | 26877 | 616174 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 158 | 8011 | 602346 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CNTNAP1 CL E G H | 8506 | 618186 | Congenital hypomyelinating neuropathy 3 | 618186 | | OMIM | 1 | | 216 | 8011 | 602346 |
HP:0001332 | HP:0001332 | Dystonia | 0 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 127 | 25302 | 612837 |
HP:0001332 | HP:0001332 | Dystonia | 0 | COQ9 CL E G H | 57017 | 614654 | Coenzyme Q10 deficiency, primary, 5 | 614654 | C3553374 | OMIM | 1 | | 164 | 25302 | 612837 |
HP:0001332 | HP:0001332 | Dystonia | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 247 | 2260 | 602125 |
HP:0001332 | HP:0001332 | Dystonia | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 263 | 2260 | 602125 |
HP:0001332 | HP:0001332 | Dystonia | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 216 | 2263 | 603646 |
HP:0001332 | HP:0001332 | Dystonia | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 233 | 2263 | 603646 |
HP:0001332 | HP:0001332 | Dystonia | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 216 | 2263 | 603646 |
HP:0001332 | HP:0001332 | Dystonia | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 233 | 2263 | 603646 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 729 | 26169 | 613129 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 918 | 26169 | 613129 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 59 | 25613 | 616120 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 439 | 2605 | 606530 |
HP:0001332 | HP:0001332 | Dystonia | 0 | CYP27A1 CL E G H | 1593 | 909 | | | | ORPHA | 1 | | 599 | 2605 | 606530 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 229 | 25784 | 612515 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DCAF17 CL E G H | 80067 | 3464 | | | | ORPHA | 1 | | 251 | 25784 | 612515 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 229 | 25784 | 612515 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DCAF17 CL E G H | 80067 | 241080 | Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities | 241080 | C0342286 | OMIM | 1 | | 251 | 25784 | 612515 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 199 | 20603 | 608172 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DHDDS CL E G H | 79947 | 617836 | DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES | 617836 | CN769090 | OMIM | 1 | | 256 | 20603 | 608172 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 49 | 16716 | 616423 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 58 | 16716 | 616423 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 329 | 2898 | 238331 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 355 | 2898 | 238331 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 161 | 2938 | 612186 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 306 | 2938 | 612186 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 173 | 15469 | 608375 |
HP:0001332 | HP:0001332 | Dystonia | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 215 | 15469 | 608375 |
HP:0001332 | HP:0001332 | Dystonia | 0 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 207 | 29419 | 612799 |
HP:0001332 | HP:0001332 | Dystonia | 0 | EARS2 CL E G H | 124454 | 614924 | Combined oxidative phosphorylation deficiency 12 | 614924 | C3554079 | OMIM | 1 | | 235 | 29419 | 612799 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 241 | 3151 | 602292 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 301 | 3151 | 602292 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ECHS1 CL E G H | 1892 | 616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | 616277 | C4225391 | OMIM | 1 | | 241 | 3151 | 602292 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ECHS1 CL E G H | 1892 | 616277 | Mitochondrial short-chain enoyl-coa hydratase 1 deficiency | 616277 | C4225391 | OMIM | 1 | | 301 | 3151 | 602292 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 1 | | 76 | 3153 | 602201 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ECM1 CL E G H | 1893 | 530 | Acute myeloblastic leukemia type 5 | | | ORPHA | 1 | | 77 | 3153 | 602201 |
HP:0001332 | HP:0001332 | Dystonia | 0 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 241 | 21197 | 611026 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FA2H CL E G H | 79152 | 612319 | Spastic paraplegia 35 | 612319 | C3668943 | OMIM | 1 | | 275 | 21197 | 611026 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 161 | 13586 | 605648 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FBXO7 CL E G H | 25793 | 171695 | | | | ORPHA | 1 | | 183 | 13586 | 605648 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 161 | 13586 | 605648 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FBXO7 CL E G H | 25793 | 260300 | Parkinson disease 15 | 260300 | C1850100 | OMIM | 1 | | 183 | 13586 | 605648 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 491 | 3811 | 164874 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FOXG1 CL E G H | 2290 | 613454 | Rett syndrome, congenital variant | 613454 | C3150705 | OMIM | 1 | | 534 | 3811 | 164874 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 210 | 26927 | 613622 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 231 | 26927 | 613622 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 1 | | 109 | 3999 | 134790 |
HP:0001332 | HP:0001332 | Dystonia | 0 | FTL CL E G H | 2512 | 157846 | | | | ORPHA | 1 | | 138 | 3999 | 134790 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 504 | 4507 | 607340 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GABBR2 CL E G H | 9568 | 617903 | NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS | 617903 | CN870852 | OMIM | 1 | | 557 | 4507 | 607340 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 321 | 4082 | 600232 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 358 | 4082 | 600232 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | 261 | 4177 | 606463 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GBA CL E G H | 2629 | 77260 | | | | ORPHA | 1 | | 269 | 4177 | 606463 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 468 | 4189 | 608801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 521 | 4189 | 608801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GCDH CL E G H | 2639 | 231670 | Glutaric aciduria, type 1 | 231670 | C0268595 | OMIM | 1 | | 468 | 4189 | 608801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GCDH CL E G H | 2639 | 231670 | Glutaric aciduria, type 1 | 231670 | C0268595 | OMIM | 1 | | 521 | 4189 | 608801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 174 | 17494 | 608803 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 221 | 17494 | 608803 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GLB1 CL E G H | 2720 | 230650 | Gangliosidosis GM1 type 3 | 230650 | C0268273 | OMIM | 1 | | 507 | 4298 | 611458 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GLB1 CL E G H | 2720 | 230650 | Gangliosidosis GM1 type 3 | 230650 | C0268273 | OMIM | 1 | | 596 | 4298 | 611458 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GM2A CL E G H | 2760 | 309246 | | | | ORPHA | 1 | | 142 | 4367 | 613109 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GM2A CL E G H | 2760 | 309246 | | | | ORPHA | 1 | | 153 | 4367 | 613109 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 142 | 4367 | 613109 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 153 | 4367 | 613109 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GNAO1 CL E G H | 2775 | 617493 | Neurodevelopmental disorder with involuntary movements | 617493 | C4479569 | OMIM | 1 | | 255 | 4389 | 139311 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GNAO1 CL E G H | 2775 | 617493 | Neurodevelopmental disorder with involuntary movements | 617493 | C4479569 | OMIM | 1 | | 285 | 4389 | 139311 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 531 | 4584 | 138249 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 587 | 4584 | 138249 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GRIN2B CL E G H | 2904 | 616139 | Epileptic encephalopathy, early infantile, 27 | 616139 | C4015316 | OMIM | 1 | | 893 | 4586 | 138252 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GRIN2B CL E G H | 2904 | 616139 | Epileptic encephalopathy, early infantile, 27 | 616139 | C4015316 | OMIM | 1 | | 965 | 4586 | 138252 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 893 | 4586 | 138252 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GRIN2B CL E G H | 2904 | 613970 | Mental retardation, autosomal dominant 6 | 613970 | C3151411 | OMIM | 1 | | 965 | 4586 | 138252 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 34 | 4670 | 607434 |
HP:0001332 | HP:0001332 | Dystonia | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 50 | 4670 | 607434 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 76 | 21033 | 610876 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 91 | 21033 | 610876 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 137 | 4908 | 610690 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HIBCH CL E G H | 26275 | 250620 | Beta-hydroxyisobutyryl-CoA deacylase deficiency | 250620 | C0342738 | OMIM | 1 | | 153 | 4908 | 610690 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HPRT1 CL E G H | 3251 | 300322 | Lesch-Nyhan syndrome | 300322 | C0023374 | OMIM | 1 | | 306 | 5157 | 308000 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HPRT1 CL E G H | 3251 | 300322 | Lesch-Nyhan syndrome | 300322 | C0023374 | OMIM | 1 | | 320 | 5157 | 308000 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 96 | 14348 | 606441 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HTRA2 CL E G H | 27429 | 617248 | 3-methylglutaconic aciduria, type VIII | 617248 | C4310650 | OMIM | 1 | | 132 | 14348 | 606441 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 145 | 4851 | 613004 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 393 | 4851 | 613004 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0001332 | HP:0001332 | Dystonia | 0 | HTT CL E G H | 3064 | 617435 | Lopes-Maciel-Rodan syndrome | 617435 | C4479491 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0001332 | HP:0001332 | Dystonia | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 476 | 18873 | 606951 |
HP:0001332 | HP:0001332 | Dystonia | 0 | IFIH1 CL E G H | 64135 | 51 | | | | ORPHA | 1 | | 718 | 18873 | 606951 |
HP:0001332 | HP:0001332 | Dystonia | 0 | IFIH1 CL E G H | 64135 | 615846 | Aicardi-Goutieres syndrome 7 | 615846 | C3888244 | OMIM | 1 | | 476 | 18873 | 606951 |
HP:0001332 | HP:0001332 | Dystonia | 0 | IFIH1 CL E G H | 64135 | 615846 | Aicardi-Goutieres syndrome 7 | 615846 | C3888244 | OMIM | 1 | | 718 | 18873 | 606951 |
HP:0001332 | HP:0001332 | Dystonia | 0 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 109 | 14282 | 611720 |
HP:0001332 | HP:0001332 | Dystonia | 0 | IRF2BPL CL E G H | 64207 | 618088 | NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES | 618088 | CN252701 | OMIM | 1 | | 116 | 14282 | 611720 |
HP:0001332 | HP:0001332 | Dystonia | 0 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 122 | 14203 | 605268 |
HP:0001332 | HP:0001332 | Dystonia | 0 | JPH3 CL E G H | 57338 | 606438 | Huntington disease-like 2 | 606438 | C1847987 | OMIM | 1 | | 123 | 14203 | 605268 |
HP:0001332 | HP:0001332 | Dystonia | 0 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1380 | 6296 | 602235 |
HP:0001332 | HP:0001332 | Dystonia | 0 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1534 | 6296 | 602235 |
HP:0001332 | HP:0001332 | Dystonia | 0 | KCNQ2 CL E G H | 3785 | 613720 | Early infantile epileptic encephalopathy 7 | 613720 | C3150986 | OMIM | 1 | | 1380 | 6296 | 602235 |
HP:0001332 | HP:0001332 | Dystonia | 0 | KCNQ2 CL E G H | 3785 | 613720 | Early infantile epileptic encephalopathy 7 | 613720 | C3150986 | OMIM | 1 | | 1534 | 6296 | 602235 |
HP:0001332 | HP:0001332 | Dystonia | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 73 | 29569 | 610284 |
HP:0001332 | HP:0001332 | Dystonia | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 90 | 29569 | 610284 |
HP:0001332 | HP:0001332 | Dystonia | 0 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 73 | 29569 | 610284 |
HP:0001332 | HP:0001332 | Dystonia | 0 | LIPT1 CL E G H | 51601 | 616299 | Lipoyltransferase 1 deficiency | 616299 | C4225379 | OMIM | 1 | | 90 | 29569 | 610284 |
HP:0001332 | HP:0001332 | Dystonia | 0 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 27 | 37216 | 617659 |
HP:0001332 | HP:0001332 | Dystonia | 0 | LIPT2 CL E G H | 387787 | 617668 | ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES | 617668 | C4540052 | OMIM | 1 | | 50 | 37216 | 617659 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MARS2 CL E G H | 92935 | 314603 | | | | ORPHA | 1 | | 95 | 25133 | 609728 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MARS2 CL E G H | 92935 | 314603 | | | | ORPHA | 1 | | 109 | 25133 | 609728 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 95 | 25133 | 609728 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 109 | 25133 | 609728 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MAT1A CL E G H | 4143 | 250850 | Hepatic methionine adenosyltransferase deficiency | 250850 | C0268621 | OMIM | 1 | | 231 | 6903 | 610550 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MAT1A CL E G H | 4143 | 250850 | Hepatic methionine adenosyltransferase deficiency | 250850 | C0268621 | OMIM | 1 | | 257 | 6903 | 610550 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MCOLN1 CL E G H | 57192 | 252650 | Mucolipidosis type IV | 252650 | C0238286 | OMIM | 1 | | 418 | 13356 | 605248 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MCOLN1 CL E G H | 57192 | 252650 | Mucolipidosis type IV | 252650 | C0238286 | OMIM | 1 | | 448 | 13356 | 605248 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MDH2 CL E G H | 4191 | 617339 | Epileptic encephalopathy, early infantile, 51 | 617339 | C4479208 | OMIM | 1 | | 90 | 6971 | 154100 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MDH2 CL E G H | 4191 | 617339 | Epileptic encephalopathy, early infantile, 51 | 617339 | C4479208 | OMIM | 1 | | 169 | 6971 | 154100 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MECP2 CL E G H | 4204 | 778 | | | | ORPHA | 1 | | 1603 | 6990 | 300005 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MECP2 CL E G H | 4204 | 778 | | | | ORPHA | 1 | | 1684 | 6990 | 300005 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1603 | 6990 | 300005 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1684 | 6990 | 300005 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MICU1 CL E G H | 10367 | 401768 | | | | ORPHA | 1 | | 101 | 1530 | 605084 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MICU1 CL E G H | 10367 | 401768 | | | | ORPHA | 1 | | 135 | 1530 | 605084 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MMADHC CL E G H | 27249 | 277410 | Methylmalonic acidemia with homocystinuria cblD | 277410 | C1848552 | OMIM | 1 | | 175 | 25221 | 611935 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MMADHC CL E G H | 27249 | 277410 | Methylmalonic acidemia with homocystinuria cblD | 277410 | C1848552 | OMIM | 1 | | 201 | 25221 | 611935 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 1 | | 611 | 7526 | 609058 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 1 | | 684 | 7526 | 609058 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 155 | 7224 | 137960 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 170 | 7224 | 137960 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1258 | 7230 | 600814 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1259 | 7230 | 600814 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1258 | 7230 | 600814 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1259 | 7230 | 600814 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 63 | 16618 | 611994 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 69 | 16618 | 611994 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MT-ATP6 CL E G H | 4508 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7414 | 516060 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MT-CO3 CL E G H | 4514 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7422 | 516050 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MT-CYB CL E G H | 4519 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7427 | 516020 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MT-ND1 CL E G H | 4535 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7455 | 516000 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MT-ND2 CL E G H | 4536 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7456 | 516001 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MT-ND4 CL E G H | 4538 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7459 | 516003 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MT-ND4L CL E G H | 4539 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7460 | 516004 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MT-ND5 CL E G H | 4540 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7461 | 516005 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MT-ND6 CL E G H | 4541 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7462 | 516006 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 132 | 29666 | 611766 |
HP:0001332 | HP:0001332 | Dystonia | 0 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 162 | 29666 | 611766 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NADK2 CL E G H | 133686 | 431361 | | | | ORPHA | 1 | | 113 | 26404 | 615787 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NADK2 CL E G H | 133686 | 431361 | | | | ORPHA | 1 | | 143 | 26404 | 615787 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 113 | 26404 | 615787 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NADK2 CL E G H | 133686 | 616034 | 2,4-Dienoyl-CoA reductase deficiency | 616034 | C1857252 | OMIM | 1 | | 143 | 26404 | 615787 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 336 | 7684 | 603835 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 359 | 7684 | 603835 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 53 | 23987 | 614530 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 64 | 23987 | 614530 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA12 CL E G H | 55967 | 618244 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 | 618244 | | OMIM | 1 | | 53 | 23987 | 614530 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA12 CL E G H | 55967 | 618244 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 | 618244 | | OMIM | 1 | | 64 | 23987 | 614530 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 18 | 17194 | 609435 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 19 | 17194 | 609435 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 71 | 7685 | 602137 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 74 | 7685 | 602137 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 70 | 7687 | 603833 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 73 | 7687 | 603833 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 149 | 7693 | 603834 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 172 | 7693 | 603834 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 149 | 7693 | 603834 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFA9 CL E G H | 4704 | 618247 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | 618247 | | OMIM | 1 | | 172 | 7693 | 603834 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 102 | 28086 | 609653 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 109 | 28086 | 609653 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 103 | 21034 | 611776 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF4 CL E G H | 29078 | 618237 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 | 618237 | | OMIM | 1 | | 109 | 21034 | 611776 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 221 | 15899 | 612360 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 228 | 15899 | 612360 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF5 CL E G H | 79133 | 618238 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | 618238 | | OMIM | 1 | | 221 | 15899 | 612360 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF5 CL E G H | 79133 | 618238 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16 | 618238 | | OMIM | 1 | | 228 | 15899 | 612360 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 166 | 28625 | 612392 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 185 | 28625 | 612392 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 166 | 28625 | 612392 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 185 | 28625 | 612392 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 263 | 7707 | 157655 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 301 | 7707 | 157655 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS1 CL E G H | 4719 | 618226 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | 618226 | | OMIM | 1 | | 263 | 7707 | 157655 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS1 CL E G H | 4719 | 618226 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | 618226 | | OMIM | 1 | | 301 | 7707 | 157655 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 139 | 7708 | 602985 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 160 | 7708 | 602985 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 77 | 7710 | 603846 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 91 | 7710 | 603846 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 77 | 7710 | 603846 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS3 CL E G H | 4722 | 618230 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 | 618230 | | OMIM | 1 | | 91 | 7710 | 603846 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 97 | 7711 | 602694 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 101 | 7711 | 602694 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 130 | 7714 | 601825 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 142 | 7714 | 601825 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 130 | 7714 | 601825 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 142 | 7714 | 601825 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 82 | 7715 | 602141 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 88 | 7715 | 602141 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS8 CL E G H | 4728 | 618222 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 618222 | | OMIM | 1 | | 82 | 7715 | 602141 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFS8 CL E G H | 4728 | 618222 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2 | 618222 | | OMIM | 1 | | 88 | 7715 | 602141 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 174 | 7716 | 161015 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 200 | 7716 | 161015 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 163 | 7717 | 600532 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 180 | 7717 | 600532 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NHLRC2 CL E G H | 374354 | 618278 | 618278 | 618278 | | OMIM | 1 | | 33 | 24731 | 0 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NHLRC2 CL E G H | 374354 | 618278 | 618278 | 618278 | | OMIM | 1 | | 36 | 24731 | 0 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 170 | 11825 | 600635 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 194 | 11825 | 600635 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 119 | 19321 | 605955 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 151 | 19321 | 605955 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 119 | 19321 | 605955 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NKX6-2 CL E G H | 84504 | 617560 | SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | 617560 | C4479653 | OMIM | 1 | | 151 | 19321 | 605955 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 1085 | 7897 | 607623 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 1288 | 7897 | 607623 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 127 | 14537 | 601015 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 147 | 14537 | 601015 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 89 | 7981 | 601828 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NR4A2 CL E G H | 4929 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 95 | 7981 | 601828 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 43 | 8066 | 605815 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 77 | 8066 | 605815 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NUP62 CL E G H | 23636 | 271930 | Striatonigral degeneration infantile | 271930 | C0795996 | OMIM | 1 | | 43 | 8066 | 605815 |
HP:0001332 | HP:0001332 | Dystonia | 0 | NUP62 CL E G H | 23636 | 271930 | Striatonigral degeneration infantile | 271930 | C0795996 | OMIM | 1 | | 77 | 8066 | 605815 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 263 | 15894 | 606157 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PANK2 CL E G H | 80025 | 607236 | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration | 607236 | C1846582 | OMIM | 1 | | 331 | 15894 | 606157 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 606 | 8653 | 232000 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PCCA CL E G H | 5095 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 749 | 8653 | 232000 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 480 | 8654 | 232050 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PCCB CL E G H | 5096 | 606054 | Propionyl-CoA carboxylase deficiency | 606054 | C0268579 | OMIM | 1 | | 618 | 8654 | 232050 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PCDH12 CL E G H | 51294 | 251280 | Microcephaly with spastic quadriplegia | 251280 | C1855055 | OMIM | 1 | | 90 | 8657 | 605622 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PCDH12 CL E G H | 51294 | 251280 | Microcephaly with spastic quadriplegia | 251280 | C1855055 | OMIM | 1 | | 170 | 8657 | 605622 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 93 | 8800 | 190040 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PDGFB CL E G H | 5155 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 95 | 8800 | 190040 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 283 | 8804 | 173410 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PDGFRB CL E G H | 5159 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 304 | 8804 | 173410 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 530 | 8806 | 300502 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 538 | 8806 | 300502 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 229 | 21350 | 608769 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 264 | 21350 | 608769 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 43 | 40038 | 614770 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 51 | 40038 | 614770 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 233 | 14581 | 608309 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PINK1 CL E G H | 65018 | 605909 | Parkinson disease 6, autosomal recessive early-onset | 605909 | C1853833 | OMIM | 1 | | 271 | 14581 | 608309 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 431 | 9039 | 603604 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 513 | 9039 | 603604 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 431 | 9039 | 603604 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PLA2G6 CL E G H | 8398 | 612953 | Parkinson disease 14 | 612953 | C2751842 | OMIM | 1 | | 513 | 9039 | 603604 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 96 | 9043 | 603873 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PLAA CL E G H | 9373 | 521426 | | | | ORPHA | 1 | | 222 | 9043 | 603873 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 335 | 9086 | 300401 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 365 | 9086 | 300401 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PMPCB CL E G H | 9512 | 617954 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 | 617954 | CN244567 | OMIM | 1 | | 45 | 9119 | 603131 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PMPCB CL E G H | 9512 | 617954 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 | 617954 | CN244567 | OMIM | 1 | | 53 | 9119 | 603131 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PNKP CL E G H | 11284 | 616267 | Ataxia-oculomotor apraxia 4 | 616267 | C4225397 | OMIM | 1 | | 680 | 9154 | 605610 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PNKP CL E G H | 11284 | 616267 | Ataxia-oculomotor apraxia 4 | 616267 | C4225397 | OMIM | 1 | | 769 | 9154 | 605610 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 56 | 28900 | 612123 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PNPLA8 CL E G H | 50640 | 251950 | Mitochondrial myopathy with lactic acidosis | 251950 | C1855033 | OMIM | 1 | | 68 | 28900 | 612123 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PNPT1 CL E G H | 87178 | 614932 | Combined oxidative phosphorylation deficiency 13 | 614932 | C3554129 | OMIM | 1 | | 241 | 23166 | 610316 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PNPT1 CL E G H | 87178 | 614932 | Combined oxidative phosphorylation deficiency 13 | 614932 | C3554129 | OMIM | 1 | | 398 | 23166 | 610316 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 88 | 9171 | 602632 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 104 | 9171 | 602632 |
HP:0001332 | HP:0001332 | Dystonia | 0 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 484 | 30074 | 614258 |
HP:0001332 | HP:0001332 | Dystonia | 0 | POLR3A CL E G H | 11128 | 447896 | | | | ORPHA | 1 | | 654 | 30074 | 614258 |
HP:0001332 | HP:0001332 | Dystonia | 0 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 484 | 30074 | 614258 |
HP:0001332 | HP:0001332 | Dystonia | 0 | POLR3A CL E G H | 11128 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 654 | 30074 | 614258 |
HP:0001332 | HP:0001332 | Dystonia | 0 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 297 | 30348 | 614366 |
HP:0001332 | HP:0001332 | Dystonia | 0 | POLR3B CL E G H | 55703 | 607694 | Hypomyelinating leukodystrophy 7 | 607694 | C2676243 | OMIM | 1 | | 326 | 30348 | 614366 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 576 | 8607 | 602544 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PRKN CL E G H | 5071 | 600116 | Parkinson disease 2 | 600116 | C1868675 | OMIM | 1 | | 620 | 8607 | 602544 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 390 | 9498 | 176801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 502 | 9498 | 176801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 390 | 9498 | 176801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PSAP CL E G H | 5660 | 309256 | | | | ORPHA | 1 | | 502 | 9498 | 176801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 390 | 9498 | 176801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PSAP CL E G H | 5660 | 309263 | | | | ORPHA | 1 | | 502 | 9498 | 176801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 390 | 9498 | 176801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PSAP CL E G H | 5660 | 309271 | | | | ORPHA | 1 | | 502 | 9498 | 176801 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 408 | 9508 | 104311 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PSEN1 CL E G H | 5663 | 607822 | Alzheimer disease, type 3 | 607822 | C1843013 | OMIM | 1 | | 431 | 9508 | 104311 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 164 | 9689 | 612719 |
HP:0001332 | HP:0001332 | Dystonia | 0 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 185 | 9689 | 612719 |
HP:0001332 | HP:0001332 | Dystonia | 0 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 172 | 9752 | 612676 |
HP:0001332 | HP:0001332 | Dystonia | 0 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 224 | 9752 | 612676 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 33 | 9761 | 604198 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 56 | 9761 | 604198 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RARS CL E G H | 5917 | 438114 | | | | ORPHA | 1 | | | 9870 | 107820 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 137 | 18756 | 607352 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 237 | 18756 | 607352 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 186 | 18518 | 606034 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RNASEH2A CL E G H | 10535 | 51 | | | | ORPHA | 1 | | 259 | 18518 | 606034 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 186 | 18518 | 606034 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RNASEH2A CL E G H | 10535 | 610333 | Aicardi Goutieres syndrome 4 | 610333 | C1835912 | OMIM | 1 | | 259 | 18518 | 606034 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 197 | 25671 | 610326 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RNASEH2B CL E G H | 79621 | 51 | | | | ORPHA | 1 | | 272 | 25671 | 610326 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 147 | 24116 | 610330 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RNASEH2C CL E G H | 84153 | 51 | | | | ORPHA | 1 | | 191 | 24116 | 610330 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 147 | 24116 | 610330 |
HP:0001332 | HP:0001332 | Dystonia | 0 | RNASEH2C CL E G H | 84153 | 610329 | Aicardi Goutieres syndrome 3 | 610329 | C1835916 | OMIM | 1 | | 191 | 24116 | 610330 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 329 | 15925 | 606754 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SAMHD1 CL E G H | 25939 | 51 | | | | ORPHA | 1 | | 454 | 15925 | 606754 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 1545 | 10680 | 600857 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 1778 | 10680 | 600857 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 1545 | 10680 | 600857 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 1778 | 10680 | 600857 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 1545 | 10680 | 600857 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SDHA CL E G H | 6389 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 1778 | 10680 | 600857 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 46 | 33867 | 612848 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SDHAF1 CL E G H | 644096 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 54 | 33867 | 612848 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 442 | 10683 | 602690 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SDHD CL E G H | 6392 | 252011 | Mitochondrial complex II deficiency | 252011 | C1855008 | OMIM | 1 | | 507 | 10683 | 602690 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 249 | 21061 | 614725 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 283 | 21061 | 614725 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 400 | 16266 | 606152 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 461 | 16266 | 606152 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 400 | 16266 | 606152 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 461 | 16266 | 606152 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 220 | 10947 | 158378 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC20A2 CL E G H | 6575 | 213600 | Idiopathic basal ganglia calcification 1 | 213600 | C0393590 | OMIM | 1 | | 248 | 10947 | 158378 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC2A1 CL E G H | 6513 | 53583 | | | | ORPHA | 1 | | 672 | 11005 | 138140 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC2A1 CL E G H | 6513 | 53583 | | | | ORPHA | 1 | | 753 | 11005 | 138140 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 672 | 11005 | 138140 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC2A1 CL E G H | 6513 | 71277 | | | | ORPHA | 1 | | 753 | 11005 | 138140 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 672 | 11005 | 138140 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC2A1 CL E G H | 6513 | 601042 | Dystonia 9 | 601042 | C1832855 | OMIM | 1 | | 753 | 11005 | 138140 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC2A1 CL E G H | 6513 | 612126 | GLUT1 deficiency syndrome 2 | 612126 | C1842534 | OMIM | 1 | | 672 | 11005 | 138140 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC2A1 CL E G H | 6513 | 612126 | GLUT1 deficiency syndrome 2 | 612126 | C1842534 | OMIM | 1 | | 753 | 11005 | 138140 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 139 | 25355 | 611146 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC30A10 CL E G H | 55532 | 309854 | | | | ORPHA | 1 | | 167 | 25355 | 611146 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 139 | 25355 | 611146 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC30A10 CL E G H | 55532 | 613280 | Hypermanganesemia with dystonia 1 | 613280 | | OMIM | 1 | | 167 | 25355 | 611146 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 22 | 1329 | 604604 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC30A9 CL E G H | 10463 | 617595 | Birk-Landau-Perez syndrome | 617595 | C4539828 | OMIM | 1 | | 28 | 1329 | 604604 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC6A8 CL E G H | 6535 | 52503 | | | | ORPHA | 1 | | 716 | 11055 | 300036 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC6A8 CL E G H | 6535 | 52503 | | | | ORPHA | 1 | | 770 | 11055 | 300036 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC6A8 CL E G H | 6535 | 300352 | Creatine deficiency, X-linked | 300352 | C1845862 | OMIM | 1 | | 716 | 11055 | 300036 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC6A8 CL E G H | 6535 | 300352 | Creatine deficiency, X-linked | 300352 | C1845862 | OMIM | 1 | | 770 | 11055 | 300036 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC9A6 CL E G H | 10479 | 85278 | | | | ORPHA | 1 | | 447 | 11079 | 300231 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SLC9A6 CL E G H | 10479 | 85278 | | | | ORPHA | 1 | | 487 | 11079 | 300231 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 154 | 11138 | 163890 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SNCA CL E G H | 6622 | 171695 | | | | ORPHA | 1 | | 166 | 11138 | 163890 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 154 | 11138 | 163890 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SNCA CL E G H | 6622 | 168601 | Parkinson disease 1 | 168601 | C1868595 | OMIM | 1 | | 166 | 11138 | 163890 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SNCAIP CL E G H | 9627 | 168600 | Parkinson disease, late-onset | 168600 | C3160718 | OMIM | 1 | | 116 | 11139 | 603779 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 67 | 32952 | 616663 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SNORD118 CL E G H | 727676 | 614561 | Leukoencephalopathy, brain calcifications, and cysts | 614561 | C3281200 | OMIM | 1 | | 102 | 32952 | 616663 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 128 | 11257 | 182125 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SPR CL E G H | 6697 | 612716 | Sepiapterin reductase deficiency | 612716 | C0268468 | OMIM | 1 | | 145 | 11257 | 182125 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 383 | 11280 | 601530 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 473 | 11280 | 601530 |
HP:0001332 | HP:0001332 | Dystonia | 0 | STN1 CL E G H | 79991 | 617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | 617341 | C4479220 | OMIM | 1 | | 42 | 26200 | 613128 |
HP:0001332 | HP:0001332 | Dystonia | 0 | STN1 CL E G H | 79991 | 617341 | Cerebroretinal microangiopathy with calcifications and cysts 2 | 617341 | C4479220 | OMIM | 1 | | 105 | 26200 | 613128 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 244 | 11448 | 603921 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 277 | 11448 | 603921 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 249 | 11474 | 185620 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 313 | 11474 | 185620 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SURF1 CL E G H | 6834 | 616684 | Charcot-Marie-Tooth disease, type 4k | 616684 | C4225246 | OMIM | 1 | | 249 | 11474 | 185620 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SURF1 CL E G H | 6834 | 616684 | Charcot-Marie-Tooth disease, type 4k | 616684 | C4225246 | OMIM | 1 | | 313 | 11474 | 185620 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 249 | 11474 | 185620 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 313 | 11474 | 185620 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 730 | 11503 | 604297 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 909 | 11503 | 604297 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 730 | 11503 | 604297 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SYNJ1 CL E G H | 8867 | 615530 | Parkinson disease 20, early-onset | 615530 | C3809824 | OMIM | 1 | | 909 | 11503 | 604297 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 39 | 11509 | 185605 |
HP:0001332 | HP:0001332 | Dystonia | 0 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 44 | 11509 | 185605 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 70 | 24316 | 612958 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 79 | 24316 | 612958 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 666 | 29203 | 613577 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TBC1D24 CL E G H | 57465 | 352596 | | | | ORPHA | 1 | | 738 | 29203 | 613577 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 666 | 29203 | 613577 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 738 | 29203 | 613577 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 102 | 11588 | 600075 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 106 | 11588 | 600075 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 201 | 11817 | 300356 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TIMM8A CL E G H | 1678 | 304700 | Mohr-Tranebjaerg syndrome | 304700 | C0796074 | OMIM | 1 | | 211 | 11817 | 300356 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 62 | 22407 | 613413 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 74 | 22407 | 613413 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TPI1 CL E G H | 7167 | 615512 | Triosephosphate isomerase deficiency | 615512 | C1860808 | OMIM | 1 | | 109 | 12009 | 190450 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TPI1 CL E G H | 7167 | 615512 | Triosephosphate isomerase deficiency | 615512 | C1860808 | OMIM | 1 | | 132 | 12009 | 190450 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TPK1 CL E G H | 27010 | 614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 614458 | C3280866 | OMIM | 1 | | 221 | 17358 | 606370 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TPK1 CL E G H | 27010 | 614458 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | 614458 | C3280866 | OMIM | 1 | | 250 | 17358 | 606370 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 573 | 25751 | 614138 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 673 | 25751 | 614138 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 62 | 24284 | 614139 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TRAPPC12 CL E G H | 51112 | 617669 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY | 617669 | C4540059 | OMIM | 1 | | 78 | 24284 | 614139 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 198 | 12269 | 606609 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TREX1 CL E G H | 11277 | 51 | | | | ORPHA | 1 | | 289 | 12269 | 606609 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 198 | 12269 | 606609 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TREX1 CL E G H | 11277 | 225750 | Aicardi Goutieres syndrome 1 | 225750 | C0796126 | OMIM | 1 | | 289 | 12269 | 606609 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 54 | 20286 | 617840 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TRIT1 CL E G H | 54802 | 617873 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 | 617873 | CN807948 | OMIM | 1 | | 59 | 20286 | 617840 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TSEN2 CL E G H | 80746 | 612389 | Pontocerebellar hypoplasia type 2B | 612389 | C2676466 | OMIM | 1 | | 208 | 28422 | 608753 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TSEN2 CL E G H | 80746 | 612389 | Pontocerebellar hypoplasia type 2B | 612389 | C2676466 | OMIM | 1 | | 228 | 28422 | 608753 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TSEN34 CL E G H | 79042 | 612390 | Pontocerebellar hypoplasia type 2C | 612390 | C2676465 | OMIM | 1 | | 132 | 15506 | 608754 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TSEN34 CL E G H | 79042 | 612390 | Pontocerebellar hypoplasia type 2C | 612390 | C2676465 | OMIM | 1 | | 140 | 15506 | 608754 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 183 | 12367 | 604723 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TSFM CL E G H | 10102 | 610505 | Combined oxidative phosphorylation deficiency 3 | 610505 | C1864840 | OMIM | 1 | | 244 | 12367 | 604723 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TTC19 CL E G H | 54902 | 615157 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 | C3554605 | OMIM | 1 | | 236 | 26006 | 613814 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TTC19 CL E G H | 54902 | 615157 | Mitochondrial complex III deficiency, nuclear type 2 | 615157 | C3554605 | OMIM | 1 | | 249 | 26006 | 613814 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 168 | 20774 | 602662 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TUBB4A CL E G H | 10382 | 612438 | Leukodystrophy, hypomyelinating, 6 | 612438 | C2676244 | OMIM | 1 | | 181 | 20774 | 602662 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TXN2 CL E G H | 25828 | 616811 | Combined oxidative phosphorylation deficiency 29 | 616811 | C4225200 | OMIM | 1 | | 46 | 17772 | 609063 |
HP:0001332 | HP:0001332 | Dystonia | 0 | TXN2 CL E G H | 25828 | 616811 | Combined oxidative phosphorylation deficiency 29 | 616811 | C4225200 | OMIM | 1 | | 50 | 17772 | 609063 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 58 | 23230 | 610552 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UBA5 CL E G H | 79876 | 617132 | Epileptic encephalopathy, early infantile, 44 | 617132 | C4310700 | OMIM | 1 | | 109 | 23230 | 610552 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 200 | 12509 | 300264 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UBQLN2 CL E G H | 29978 | 300857 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia | 300857 | C3275459 | OMIM | 1 | | 217 | 12509 | 300264 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 47 | 12511 | 600673 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UBTF CL E G H | 7343 | 617672 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY | 617672 | C4540086 | OMIM | 1 | | 52 | 12511 | 600673 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UFM1 CL E G H | 51569 | 617899 | LEUKODYSTROPHY, HYPOMYELINATING, 14 | 617899 | CN845004 | OMIM | 1 | | 49 | 20597 | 610553 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UFM1 CL E G H | 51569 | 617899 | LEUKODYSTROPHY, HYPOMYELINATING, 14 | 617899 | CN845004 | OMIM | 1 | | 55 | 20597 | 610553 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UPB1 CL E G H | 51733 | 613161 | Deficiency of beta-ureidopropionase | 613161 | C1291512 | OMIM | 1 | | 180 | 16297 | 606673 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UPB1 CL E G H | 51733 | 613161 | Deficiency of beta-ureidopropionase | 613161 | C1291512 | OMIM | 1 | | 192 | 16297 | 606673 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UQCRQ CL E G H | 27089 | 615159 | Mitochondrial complex III deficiency, nuclear type 4 | 615159 | C3554607 | OMIM | 1 | | 89 | 29594 | 612080 |
HP:0001332 | HP:0001332 | Dystonia | 0 | UQCRQ CL E G H | 27089 | 615159 | Mitochondrial complex III deficiency, nuclear type 4 | 615159 | C3554607 | OMIM | 1 | | 90 | 29594 | 612080 |
HP:0001332 | HP:0001332 | Dystonia | 0 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 83 | 12642 | 185880 |
HP:0001332 | HP:0001332 | Dystonia | 0 | VAMP1 CL E G H | 6843 | 108600 | Ataxia, spastic, 1, autosomal dominant | 108600 | C1970107 | OMIM | 1 | | 99 | 12642 | 185880 |
HP:0001332 | HP:0001332 | Dystonia | 0 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 356 | 12666 | 601023 |
HP:0001332 | HP:0001332 | Dystonia | 0 | VCP CL E G H | 7415 | 167320 | Inclusion body myopathy with early-onset paget disease and frontotemporal dementia | 167320 | C1833662 | OMIM | 1 | | 395 | 12666 | 601023 |
HP:0001332 | HP:0001332 | Dystonia | 0 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 1246 | 1908 | 605978 |
HP:0001332 | HP:0001332 | Dystonia | 0 | VPS13A CL E G H | 23230 | 2388 | | | | ORPHA | 1 | | 1374 | 1908 | 605978 |
HP:0001332 | HP:0001332 | Dystonia | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 1246 | 1908 | 605978 |
HP:0001332 | HP:0001332 | Dystonia | 0 | VPS13A CL E G H | 23230 | 200150 | Choreoacanthocytosis | 200150 | C0393576 | OMIM | 1 | | 1374 | 1908 | 605978 |
HP:0001332 | HP:0001332 | Dystonia | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 191 | 23595 | 608877 |
HP:0001332 | HP:0001332 | Dystonia | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 266 | 23595 | 608877 |
HP:0001332 | HP:0001332 | Dystonia | 0 | WARS2 CL E G H | 10352 | 617710 | NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES | 617710 | C4540192 | OMIM | 1 | | 52 | 12730 | 604733 |
HP:0001332 | HP:0001332 | Dystonia | 0 | WARS2 CL E G H | 10352 | 617710 | NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES | 617710 | C4540192 | OMIM | 1 | | 65 | 12730 | 604733 |
HP:0001332 | HP:0001332 | Dystonia | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 431 | 28912 | 300526 |
HP:0001332 | HP:0001332 | Dystonia | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 464 | 28912 | 300526 |
HP:0001332 | HP:0001332 | Dystonia | 0 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 431 | 28912 | 300526 |
HP:0001332 | HP:0001332 | Dystonia | 0 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 464 | 28912 | 300526 |
HP:0001332 | HP:0001332 | Dystonia | 0 | YY1 CL E G H | 7528 | 617557 | GABRIELE-DE VRIES SYNDROME | 617557 | C4479652 | OMIM | 1 | | 72 | 12856 | 600013 |
HP:0001332 | HP:0001332 | Dystonia | 0 | YY1 CL E G H | 7528 | 617557 | GABRIELE-DE VRIES SYNDROME | 617557 | C4479652 | OMIM | 1 | | 79 | 12856 | 600013 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 217 | 24931 | 300897 |
HP:0001332 | HP:0001332 | Dystonia | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 223 | 24931 | 300897 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 338 | 21022 | 612035 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 387 | 21022 | 612035 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 338 | 21022 | 612035 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 387 | 21022 | 612035 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 338 | 21022 | 612035 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 387 | 21022 | 612035 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 338 | 21022 | 612035 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 387 | 21022 | 612035 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 338 | 21022 | 612035 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 387 | 21022 | 612035 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 338 | 21022 | 612035 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 387 | 21022 | 612035 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 338 | 21022 | 612035 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 387 | 21022 | 612035 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 338 | 21022 | 612035 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 387 | 21022 | 612035 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 27 | 16066 | 617036 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 38 | 16066 | 617036 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 27 | 16066 | 617036 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 38 | 16066 | 617036 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 27 | 16066 | 617036 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 38 | 16066 | 617036 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 27 | 16066 | 617036 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 38 | 16066 | 617036 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 27 | 16066 | 617036 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 38 | 16066 | 617036 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 27 | 16066 | 617036 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 38 | 16066 | 617036 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 27 | 16066 | 617036 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 38 | 16066 | 617036 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 27 | 16066 | 617036 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ACER3 CL E G H | 55331 | 617762 | LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET | 617762 | C4540358 | OMIM | 1 | | 38 | 16066 | 617036 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 388 | 119 | 609751 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ACOX1 CL E G H | 51 | 264470 | Pseudoneonatal adrenoleukodystrophy | 264470 | C1849678 | OMIM | 1 | | 435 | 119 | 609751 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ADAR CL E G H | 103 | 51 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 471 | 225 | 146920 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ADAR CL E G H | 103 | 615010 | Aicardi-Goutieres syndrome 6 | 615010 | C3539013 | OMIM | 1 | | 654 | 225 | 146920 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ADCY5 CL E G H | 111 | 324588 | | | | ORPHA | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 293 | 236 | 600293 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | ADCY5 CL E G H | 111 | 606703 | Dyskinesia, familial, with facial myokymia | 606703 | C1847627 | OMIM | 1 | | 365 | 236 | 600293 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | AFG3L2 CL E G H | 10939 | 313772 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0002451 | Limb dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0010553 | Oculogyric crisis | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0002268 | Paroxysmal dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0001332 | HP:0001304 | Torsion dystonia | 1 | AFG3L2 CL E G H | 10939 | 614487 | Spastic ataxia 5, autosomal recessive | 614487 | C3280977 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 133 | 7179 | 603178 |
HP:0001332 | HP:0002530 | Axial dystonia | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 146 | 7179 | 603178 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 133 | 7179 | 603178 |
HP:0001332 | HP:0004373 | Focal dystonia | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 146 | 7179 | 603178 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 133 | 7179 | 603178 |
HP:0001332 | HP:0007325 | Generalized dystonia | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 146 | 7179 | 603178 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ALDH6A1 CL E G H | 4329 | 614105 | Methylmalonate semialdehyde dehydrogenase deficiency | 614105 | C3279840 | OMIM | 1 | | 133 | 7179 | 603178 |
HP:0001332 | HP:0032005 | Hemidystonia | 1 | ALDH6A1 CL E |