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:0001251 | HP:0001251 | Ataxia | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 162 | 13666 | 605378 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AAAS CL E G H | 8086 | 231550 | Glucocorticoid deficiency with achalasia | 231550 | C0271742 | OMIM | 1 | | 174 | 13666 | 605378 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 338 | 21022 | 612035 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AARS2 CL E G H | 57505 | 615889 | Leukoencephalopathy, progressive, with ovarian failure | 615889 | C4014588 | OMIM | 1 | | 387 | 21022 | 612035 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ABCB7 CL E G H | 22 | 2802 | | | | ORPHA | 1 | | 246 | 48 | 300135 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ABCB7 CL E G H | 22 | 2802 | | | | ORPHA | 1 | | 251 | 48 | 300135 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ABCC8 CL E G H | 6833 | 240800 | Leucine-induced hypoglycemia | 240800 | C0271714 | OMIM | 1 | | 1125 | 59 | 600509 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ABCC8 CL E G H | 6833 | 240800 | Leucine-induced hypoglycemia | 240800 | C0271714 | OMIM | 1 | | 1253 | 59 | 600509 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 314 | 15868 | 613599 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ABHD12 CL E G H | 26090 | 612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | 612674 | C2675204 | OMIM | 1 | | 389 | 15868 | 613599 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 173 | 21396 | 604780 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ABHD5 CL E G H | 51099 | 98907 | | | | ORPHA | 1 | | 184 | 21396 | 604780 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ABHD5 CL E G H | 51099 | 275630 | Triglyceride storage disease with ichthyosis | 275630 | C0268238 | OMIM | 1 | | 173 | 21396 | 604780 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ABHD5 CL E G H | 51099 | 275630 | Triglyceride storage disease with ichthyosis | 275630 | C0268238 | OMIM | 1 | | 184 | 21396 | 604780 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ACO2 CL E G H | 50 | 614559 | Infantile cerebellar-retinal degeneration | 614559 | C3281192 | OMIM | 1 | | 284 | 118 | 100850 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ACO2 CL E G H | 50 | 614559 | Infantile cerebellar-retinal degeneration | 614559 | C3281192 | OMIM | 1 | | 410 | 118 | 100850 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ADA2 CL E G H | 51816 | 615688 | Polyarteritis nodosa, childhoood-onset | 615688 | C3887654 | OMIM | 1 | | 310 | 1839 | 607575 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ADA2 CL E G H | 51816 | 615688 | Polyarteritis nodosa, childhoood-onset | 615688 | C3887654 | OMIM | 1 | | 390 | 1839 | 607575 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1309 | 329 | 103320 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AGRN CL E G H | 375790 | 98914 | | | | ORPHA | 1 | | 1579 | 329 | 103320 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 650 | 21575 | 608894 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 827 | 21575 | 608894 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 650 | 21575 | 608894 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 827 | 21575 | 608894 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 380 | 391 | 164730 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AKT1 CL E G H | 207 | 201 | | | | ORPHA | 1 | | 417 | 391 | 164730 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ALDH5A1 CL E G H | 7915 | 22 | AFib amyloidosis | | CN244920 | ORPHA | 1 | | 472 | 408 | 610045 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ALDH5A1 CL E G H | 7915 | 22 | AFib amyloidosis | | CN244920 | ORPHA | 1 | | 537 | 408 | 610045 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ALG6 CL E G H | 29929 | 603147 | Congenital disorder of glycosylation type 1C | 603147 | C2930997 | OMIM | 1 | | 314 | 23157 | 604566 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ALG6 CL E G H | 29929 | 603147 | Congenital disorder of glycosylation type 1C | 603147 | C2930997 | OMIM | 1 | | 404 | 23157 | 604566 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ANOS1 CL E G H | 3730 | 308700 | Kallmann syndrome 1 | 308700 | C1563719 | OMIM | 1 | | 392 | 6211 | 300836 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ANOS1 CL E G H | 3730 | 308700 | Kallmann syndrome 1 | 308700 | C1563719 | OMIM | 1 | | 419 | 6211 | 300836 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 713 | 22197 | 613653 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AP5Z1 CL E G H | 9907 | 306511 | | | | ORPHA | 1 | | 780 | 22197 | 613653 |
HP:0001251 | HP:0001251 | Ataxia | 0 | APOB CL E G H | 338 | 615558 | Hypobetalipoproteinemia, familial, 1 | 615558 | CN182502 | OMIM | 1 | | 2340 | 603 | 107730 |
HP:0001251 | HP:0001251 | Ataxia | 0 | APOB CL E G H | 338 | 615558 | Hypobetalipoproteinemia, familial, 1 | 615558 | CN182502 | OMIM | 1 | | 2465 | 603 | 107730 |
HP:0001251 | HP:0001251 | Ataxia | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 125 | 20492 | 616003 |
HP:0001251 | HP:0001251 | Ataxia | 0 | APOPT1 CL E G H | 84334 | 436271 | | | | ORPHA | 1 | | 129 | 20492 | 616003 |
HP:0001251 | HP:0001251 | Ataxia | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 125 | 20492 | 616003 |
HP:0001251 | HP:0001251 | Ataxia | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 129 | 20492 | 616003 |
HP:0001251 | HP:0001251 | Ataxia | 0 | APTX CL E G H | 54840 | 1168 | | | | ORPHA | 1 | | 236 | 15984 | 606350 |
HP:0001251 | HP:0001251 | Ataxia | 0 | APTX CL E G H | 54840 | 1168 | | | | ORPHA | 1 | | 258 | 15984 | 606350 |
HP:0001251 | HP:0001251 | Ataxia | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 236 | 15984 | 606350 |
HP:0001251 | HP:0001251 | Ataxia | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 258 | 15984 | 606350 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 184 | 25419 | 608922 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 222 | 25419 | 608922 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARL13B CL E G H | 200894 | 612291 | Joubert syndrome 8 | 612291 | C2676771 | OMIM | 1 | | 184 | 25419 | 608922 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARL13B CL E G H | 200894 | 612291 | Joubert syndrome 8 | 612291 | C2676771 | OMIM | 1 | | 222 | 25419 | 608922 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 64 | 694 | 604695 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 90 | 694 | 604695 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARL3 CL E G H | 403 | 618161 | JOUBERT SYNDROME 35 | 618161 | | OMIM | 1 | | 64 | 694 | 604695 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARL3 CL E G H | 403 | 618161 | JOUBERT SYNDROME 35 | 618161 | | OMIM | 1 | | 90 | 694 | 604695 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 251 | 20730 | 617612 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 380 | 20730 | 617612 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 732 | 713 | 607574 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 841 | 713 | 607574 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARSG CL E G H | 22901 | 231183 | | | | ORPHA | 1 | | 174 | 24102 | 610008 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARSG CL E G H | 22901 | 231183 | | | | ORPHA | 1 | | 250 | 24102 | 610008 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 62 | 29561 | 611647 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ARV1 CL E G H | 64801 | 617020 | Epileptic encephalopathy, early infantile, 38 | 617020 | C4310762 | OMIM | 1 | | 65 | 29561 | 611647 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 423 | 746 | 608310 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 469 | 746 | 608310 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 423 | 746 | 608310 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ASL CL E G H | 435 | 23 | Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 | | C2931135 | ORPHA | 1 | | 469 | 746 | 608310 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 481 | 758 | 603470 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ASS1 CL E G H | 445 | 215700 | Citrullinemia type I | 215700 | C0175683 | OMIM | 1 | | 517 | 758 | 603470 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 27 | 25903 | 614452 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATAD1 CL E G H | 84896 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 76 | 25903 | 614452 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 250 | 25567 | 612316 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 264 | 25567 | 612316 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 10320 | 795 | 607585 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATM CL E G H | 472 | 100 | | | | ORPHA | 1 | | 11382 | 795 | 607585 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 10320 | 795 | 607585 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATM CL E G H | 472 | 208900 | Ataxia-telangiectasia syndrome | 208900 | C0004135 | OMIM | 1 | | 11382 | 795 | 607585 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 487 | 30213 | 610513 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP13A2 CL E G H | 23400 | 606693 | Parkinson disease 9 | 606693 | C1847640 | OMIM | 1 | | 609 | 30213 | 610513 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 1 | | 487 | 30213 | 610513 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP13A2 CL E G H | 23400 | 617225 | Spastic paraplegia 78, autosomal recessive | 617225 | C4310662 | OMIM | 1 | | 609 | 30213 | 610513 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP1A2 CL E G H | 477 | 569 | | | | ORPHA | 1 | | 726 | 800 | 182340 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP1A2 CL E G H | 477 | 569 | | | | ORPHA | 1 | | 801 | 800 | 182340 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 625 | 801 | 182350 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP1A3 CL E G H | 478 | 1171 | | | | ORPHA | 1 | | 687 | 801 | 182350 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 625 | 801 | 182350 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP1A3 CL E G H | 478 | 614820 | Alternating hemiplegia of childhood 2 | 614820 | C3553788 | OMIM | 1 | | 687 | 801 | 182350 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP2B3 CL E G H | 492 | 302500 | Spinocerebellar ataxia, X-linked 1 | 302500 | C0796205 | OMIM | 1 | | 292 | 816 | 300014 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP2B3 CL E G H | 492 | 302500 | Spinocerebellar ataxia, X-linked 1 | 302500 | C0796205 | OMIM | 1 | | 300 | 816 | 300014 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP8A2 CL E G H | 51761 | 1766 | | | | ORPHA | 1 | | 126 | 13533 | 605870 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATP8A2 CL E G H | 51761 | 1766 | | | | ORPHA | 1 | | 193 | 13533 | 605870 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 209 | 18802 | 608918 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 219 | 18802 | 608918 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 145 | 890 | 600529 |
HP:0001251 | HP:0001251 | Ataxia | 0 | AUH CL E G H | 549 | 250950 | 3-Methylglutaconic aciduria type 1 | 250950 | C0342727 | OMIM | 1 | | 177 | 890 | 600529 |
HP:0001251 | HP:0001251 | Ataxia | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 196 | 24123 | 614144 |
HP:0001251 | HP:0001251 | Ataxia | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 230 | 24123 | 614144 |
HP:0001251 | HP:0001251 | Ataxia | 0 | B9D1 CL E G H | 27077 | 617120 | Joubert syndrome 27 | 617120 | C4310706 | OMIM | 1 | | 196 | 24123 | 614144 |
HP:0001251 | HP:0001251 | Ataxia | 0 | B9D1 CL E G H | 27077 | 617120 | Joubert syndrome 27 | 617120 | C4310706 | OMIM | 1 | | 230 | 24123 | 614144 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 491 | 966 | 209901 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 582 | 966 | 209901 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 384 | 986 | 608348 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 413 | 986 | 608348 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 448 | 987 | 248611 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 478 | 987 | 248611 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 249 | 1020 | 603647 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 279 | 1020 | 603647 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BEAN1 CL E G H | 146227 | 117210 | Spinocerebellar ataxia 31 | 117210 | C1861736 | OMIM | 1 | | 35 | 24160 | 612051 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 330 | 15832 | 606158 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BSCL2 CL E G H | 26580 | 615924 | Encephalopathy, progressive, with or without lipodystrophy | 615924 | C4014700 | OMIM | 1 | | 373 | 15832 | 606158 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BTD CL E G H | 686 | 79241 | | | | ORPHA | 1 | | 366 | 1122 | 609019 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BTD CL E G H | 686 | 79241 | | | | ORPHA | 1 | | 409 | 1122 | 609019 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 366 | 1122 | 609019 |
HP:0001251 | HP:0001251 | Ataxia | 0 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 409 | 1122 | 609019 |
HP:0001251 | HP:0001251 | Ataxia | 0 | C12orf65 CL E G H | 91574 | 613559 | Combined oxidative phosphorylation deficiency 7 | 613559 | C3150801 | OMIM | 1 | | | 26784 | 613541 |
HP:0001251 | HP:0001251 | Ataxia | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 240 | 25443 | 614297 |
HP:0001251 | HP:0001251 | Ataxia | 0 | C19orf12 CL E G H | 83636 | 614298 | Neurodegeneration with brain iron accumulation 4 | 614298 | C3280371 | OMIM | 1 | | 248 | 25443 | 614297 |
HP:0001251 | HP:0001251 | Ataxia | 0 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 1 | | 161 | 28337 | 614260 |
HP:0001251 | HP:0001251 | Ataxia | 0 | C9orf72 CL E G H | 203228 | 401901 | | | | ORPHA | 1 | | 165 | 28337 | 614260 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CA8 CL E G H | 767 | 1766 | | | | ORPHA | 1 | | 77 | 1382 | 114815 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CA8 CL E G H | 767 | 1766 | | | | ORPHA | 1 | | 83 | 1382 | 114815 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CA8 CL E G H | 767 | 613227 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 | 613227 | C2750509 | OMIM | 1 | | 77 | 1382 | 114815 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CA8 CL E G H | 767 | 613227 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 | 613227 | C2750509 | OMIM | 1 | | 83 | 1382 | 114815 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CACNA1A CL E G H | 773 | 97 | | | | ORPHA | 1 | | 2047 | 1388 | 601011 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CACNA1A CL E G H | 773 | 97 | | | | ORPHA | 1 | | 2326 | 1388 | 601011 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CACNA1A CL E G H | 773 | 569 | | | | ORPHA | 1 | | 2047 | 1388 | 601011 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CACNA1A CL E G H | 773 | 569 | | | | ORPHA | 1 | | 2326 | 1388 | 601011 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CACNA1A CL E G H | 773 | 71518 | | | | ORPHA | 1 | | 2047 | 1388 | 601011 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CACNA1A CL E G H | 773 | 71518 | | | | ORPHA | 1 | | 2326 | 1388 | 601011 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2047 | 1388 | 601011 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CACNA1A CL E G H | 773 | 617106 | Epileptic encephalopathy, early infantile, 42 | 617106 | C4310716 | OMIM | 1 | | 2326 | 1388 | 601011 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CACNA1A CL E G H | 773 | 141500 | Familial hemiplegic migraine type 1 | 141500 | C1832884 | OMIM | 1 | | 2047 | 1388 | 601011 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CACNA1A CL E G H | 773 | 141500 | Familial hemiplegic migraine type 1 | 141500 | C1832884 | OMIM | 1 | | 2326 | 1388 | 601011 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 881 | 29253 | 612013 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1064 | 29253 | 612013 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 881 | 29253 | 612013 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1064 | 29253 | 612013 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 2612 | 13733 | 605516 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 3075 | 13733 | 605516 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 354 | 24866 | 616690 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 384 | 24866 | 616690 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 210 | 26690 | 613446 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 250 | 26690 | 613446 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 210 | 26690 | 613446 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 250 | 26690 | 613446 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 1 | | 1535 | 29021 | 610142 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 1 | | 1902 | 29021 | 610142 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP290 CL E G H | 80184 | 610188 | Joubert syndrome 5 | 610188 | C1857780 | OMIM | 1 | | 1535 | 29021 | 610142 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP290 CL E G H | 80184 | 610188 | Joubert syndrome 5 | 610188 | C1857780 | OMIM | 1 | | 1902 | 29021 | 610142 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 297 | 12370 | 610523 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 347 | 12370 | 610523 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 297 | 12370 | 610523 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 347 | 12370 | 610523 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP41 CL E G H | 95681 | 614464 | Joubert syndrome 15 | 614464 | C3280897 | OMIM | 1 | | 297 | 12370 | 610523 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP41 CL E G H | 95681 | 614464 | Joubert syndrome 15 | 614464 | C3280897 | OMIM | 1 | | 347 | 12370 | 610523 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP78 CL E G H | 84131 | 231183 | | | | ORPHA | 1 | | 285 | 25740 | 617110 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CEP78 CL E G H | 84131 | 231183 | | | | ORPHA | 1 | | 389 | 25740 | 617110 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 511 | 1912 | 118490 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CHAT CL E G H | 1103 | 98914 | | | | ORPHA | 1 | | 652 | 1912 | 118490 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 205 | 15559 | 615903 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CHCHD10 CL E G H | 400916 | 615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | 615911 | C4014648 | OMIM | 1 | | 230 | 15559 | 615903 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1163 | 1917 | 602119 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CHD2 CL E G H | 1106 | 1942 | | | | ORPHA | 1 | | 1326 | 1917 | 602119 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 137 | 24579 | 605564 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 163 | 24579 | 605564 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 26 | 24212 | 611507 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CISD2 CL E G H | 493856 | 3463 | | | | ORPHA | 1 | | 38 | 24212 | 611507 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 449 | 2076 | 608102 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CLN5 CL E G H | 1203 | 256731 | Ceroid lipofuscinosis neuronal 5 | 256731 | C1850442 | OMIM | 1 | | 509 | 2076 | 608102 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 463 | 2077 | 606725 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CLN6 CL E G H | 54982 | 204300 | Adult neuronal ceroid lipofuscinosis | 204300 | C0022797 | OMIM | 1 | | 510 | 2077 | 606725 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 431 | 2079 | 607837 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CLN8 CL E G H | 2055 | 600143 | Ceroid lipofuscinosis neuronal 8 | 600143 | C1838570 | OMIM | 1 | | 483 | 2079 | 607837 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CLRN1 CL E G H | 7401 | 231183 | | | | ORPHA | 1 | | 242 | 12605 | 606397 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CLRN1 CL E G H | 7401 | 231183 | | | | ORPHA | 1 | | 272 | 12605 | 606397 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CLTC CL E G H | 1213 | 617854 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 | 617854 | CN787270 | OMIM | 1 | | 102 | 2092 | 118955 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CLTC CL E G H | 1213 | 617854 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 56 | 617854 | CN787270 | OMIM | 1 | | 202 | 2092 | 118955 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1339 | 13830 | 604569 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CNTNAP2 CL E G H | 26047 | 610042 | Pitt-Hopkins-like syndrome 1 | 610042 | C2750246 | OMIM | 1 | | 1505 | 13830 | 604569 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 27 | 25716 | 615623 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 31 | 25716 | 615623 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 221 | 18620 | 606976 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COG4 CL E G H | 25839 | 263501 | | | | ORPHA | 1 | | 247 | 18620 | 606976 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 221 | 18620 | 606976 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COG4 CL E G H | 25839 | 613489 | Congenital disorder of glycosylation type 2J | 613489 | C3150736 | OMIM | 1 | | 247 | 18620 | 606976 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 179 | 2190 | 120350 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COL13A1 CL E G H | 1305 | 98914 | | | | ORPHA | 1 | | 294 | 2190 | 120350 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 137 | 25223 | 609825 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 171 | 25223 | 609825 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 367 | 16812 | 606980 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COQ8A CL E G H | 56997 | 612016 | Coenzyme Q10 deficiency, primary, 4 | 612016 | C2677589 | OMIM | 1 | | 435 | 16812 | 606980 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 247 | 2260 | 602125 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 263 | 2260 | 602125 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 247 | 2260 | 602125 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 263 | 2260 | 602125 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 24 | 28216 | 614478 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 28 | 28216 | 614478 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 216 | 2263 | 603646 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 233 | 2263 | 603646 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 139 | 26970 | 614698 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 155 | 26970 | 614698 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 44 | 2280 | 124089 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 52 | 2280 | 124089 |
HP:0001251 | HP:0001251 | Ataxia | 0 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 18 | 2294 | 123870 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 466 | 2295 | 117700 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CP CL E G H | 1356 | 48818 | | | | ORPHA | 1 | | 571 | 2295 | 117700 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 824 | 25801 | 614571 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CPLANE1 CL E G H | 65250 | 2754 | | | | ORPHA | 1 | | 1239 | 25801 | 614571 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 824 | 25801 | 614571 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 1239 | 25801 | 614571 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CPLANE1 CL E G H | 65250 | 614615 | Joubert syndrome 17 | 614615 | C3553264 | OMIM | 1 | | 824 | 25801 | 614571 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CPLANE1 CL E G H | 65250 | 614615 | Joubert syndrome 17 | 614615 | C3553264 | OMIM | 1 | | 1239 | 25801 | 614571 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CPS1 CL E G H | 1373 | 237300 | Congenital hyperammonemia, type I | 237300 | C0751753 | OMIM | 1 | | 814 | 2323 | 608307 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CPS1 CL E G H | 1373 | 237300 | Congenital hyperammonemia, type I | 237300 | C0751753 | OMIM | 1 | | 910 | 2323 | 608307 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 476 | 26193 | 611654 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 687 | 26193 | 611654 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 476 | 26193 | 611654 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CSPP1 CL E G H | 79848 | 615636 | Joubert syndrome 21 | 615636 | C3810212 | OMIM | 1 | | 687 | 26193 | 611654 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 224 | 2482 | 601145 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CSTB CL E G H | 1476 | 254800 | Unverricht-Lundborg syndrome | 254800 | C0751785 | OMIM | 1 | | 241 | 2482 | 601145 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 729 | 26169 | 613129 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CTC1 CL E G H | 80169 | 612199 | Cerebroretinal microangiopathy with calcifications and cysts 1 | 612199 | C2677299 | OMIM | 1 | | 918 | 26169 | 613129 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 323 | 2498 | 604927 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CTDP1 CL E G H | 9150 | 604168 | Congenital Cataracts, Facial Dysmorphism, and Neuropathy | 604168 | C1858726 | OMIM | 1 | | 348 | 2498 | 604927 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 90 | 2510 | 114025 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 93 | 2510 | 114025 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 413 | 2529 | 116840 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 465 | 2529 | 116840 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 129 | 2531 | 603539 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CTSF CL E G H | 8722 | 615362 | Ceroid lipofuscinosis, neuronal, 13 | 615362 | C3715049 | OMIM | 1 | | 140 | 2531 | 603539 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 439 | 2605 | 606530 |
HP:0001251 | HP:0001251 | Ataxia | 0 | CYP27A1 CL E G H | 1593 | 213700 | Cholestanol storage disease | 213700 | C0238052 | OMIM | 1 | | 599 | 2605 | 606530 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DAB1 CL E G H | 1600 | 615945 | Spinocerebellar ataxia 37 | 615945 | C3889636 | OMIM | 1 | | 80 | 2661 | 603448 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DAB1 CL E G H | 1600 | 615945 | Spinocerebellar ataxia 37 | 615945 | C3889636 | OMIM | 1 | | 81 | 2661 | 603448 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 1 | | 236 | 25538 | 610956 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DARS2 CL E G H | 55157 | 611105 | Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation | 611105 | C1970180 | OMIM | 1 | | 266 | 25538 | 610956 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 467 | 2698 | 248610 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 511 | 2698 | 248610 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DCX CL E G H | 1641 | 300067 | Lissencephaly, X-linked | 300067 | C1848199 | OMIM | 1 | | 357 | 2714 | 300121 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DCX CL E G H | 1641 | 300067 | Lissencephaly, X-linked | 300067 | C1848199 | OMIM | 1 | | 368 | 2714 | 300121 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DHFR CL E G H | 1719 | 613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | 613839 | C3151205 | OMIM | 1 | | 277 | 2861 | 126060 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DHFR CL E G H | 1719 | 613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | 613839 | C3151205 | OMIM | 1 | | 343 | 2861 | 126060 |
HP:0001251 | HP:0001251 | Ataxia | 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:0001251 | HP:0001251 | Ataxia | 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:0001251 | HP:0001251 | Ataxia | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 168 | 2896 | 608770 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DLAT CL E G H | 1737 | 245348 | Pyruvate dehydrogenase E2 deficiency | 245348 | C1855565 | OMIM | 1 | | 199 | 2896 | 608770 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 329 | 2898 | 238331 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DLD CL E G H | 1738 | 246900 | Maple syrup urine disease, type 3 | 246900 | CN043137 | OMIM | 1 | | 355 | 2898 | 238331 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 161 | 2938 | 612186 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DMXL2 CL E G H | 23312 | 616113 | Polyendocrine-polyneuropathy syndrome | 616113 | C4015261 | OMIM | 1 | | 306 | 2938 | 612186 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 78 | 30528 | 608977 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DNAJC19 CL E G H | 131118 | 66634 | | | | ORPHA | 1 | | 95 | 30528 | 608977 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 340 | 16235 | 611203 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DNAJC5 CL E G H | 80331 | 162350 | Ceroid lipofuscinosis neuronal 4B autosomal dominant | 162350 | C1834207 | OMIM | 1 | | 359 | 16235 | 611203 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 749 | 2976 | 126375 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DNMT1 CL E G H | 1786 | 604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | 604121 | C1858804 | OMIM | 1 | | 832 | 2976 | 126375 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 156 | 3005 | 603503 |
HP:0001251 | HP:0001251 | Ataxia | 0 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 188 | 3005 | 603503 |
HP:0001251 | HP:0001251 | Ataxia | 0 | EDNRB CL E G H | 1910 | 277580 | Waardenburg syndrome type 4A | 277580 | C1848519 | OMIM | 1 | | 233 | 3180 | 131244 |
HP:0001251 | HP:0001251 | Ataxia | 0 | EDNRB CL E G H | 1910 | 277580 | Waardenburg syndrome type 4A | 277580 | C1848519 | OMIM | 1 | | 258 | 3180 | 131244 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1054 | 5959 | 603722 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1181 | 5959 | 603722 |
HP:0001251 | HP:0001251 | Ataxia | 0 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 360 | 3434 | 126340 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC2 CL E G H | 2068 | 220295 | | | | ORPHA | 1 | | 479 | 3434 | 126340 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 360 | 3434 | 126340 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC2 CL E G H | 2068 | 278730 | Xeroderma pigmentosum, group D | 278730 | C0268138 | OMIM | 1 | | 479 | 3434 | 126340 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 186 | 3435 | 133510 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC3 CL E G H | 2071 | 220295 | | | | ORPHA | 1 | | 283 | 3435 | 133510 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 186 | 3435 | 133510 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC3 CL E G H | 2071 | 610651 | Xeroderma pigmentosum, complementation group b | 610651 | C1970808 | OMIM | 1 | | 283 | 3435 | 133510 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 469 | 3436 | 133520 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC4 CL E G H | 2072 | 220295 | | | | ORPHA | 1 | | 538 | 3436 | 133520 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 361 | 3437 | 133530 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC5 CL E G H | 2073 | 220295 | | | | ORPHA | 1 | | 374 | 3437 | 133530 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC6 CL E G H | 2074 | 133540 | Cockayne syndrome B | 133540 | C0751038 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 825 | 3438 | 609413 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC6 CL E G H | 2074 | 278800 | DE SANCTIS-CACCHIONE SYNDROME | 278800 | C0265201 | OMIM | 1 | | 946 | 3438 | 609413 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 310 | 3439 | 609412 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ERCC8 CL E G H | 1161 | 216400 | Cockayne syndrome type A | 216400 | C0751039 | OMIM | 1 | | 343 | 3439 | 609412 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 204 | 23287 | 608451 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ETHE1 CL E G H | 23474 | 51188 | | | | ORPHA | 1 | | 226 | 23287 | 608451 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 204 | 23287 | 608451 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 226 | 23287 | 608451 |
HP:0001251 | HP:0001251 | Ataxia | 0 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 270 | 29160 | 612322 |
HP:0001251 | HP:0001251 | Ataxia | 0 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 294 | 29160 | 612322 |
HP:0001251 | HP:0001251 | Ataxia | 0 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 326 | 24682 | 609144 |
HP:0001251 | HP:0001251 | Ataxia | 0 | FLVCR1 CL E G H | 28982 | 609033 | Posterior column ataxia with retinitis pigmentosa | 609033 | C1836916 | OMIM | 1 | | 391 | 24682 | 609144 |
HP:0001251 | HP:0001251 | Ataxia | 0 | FRMD4A CL E G H | 55691 | 616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 616819 | C4225193 | OMIM | 1 | | 57 | 25491 | 616305 |
HP:0001251 | HP:0001251 | Ataxia | 0 | FRMD4A CL E G H | 55691 | 616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | 616819 | C4225193 | OMIM | 1 | | 58 | 25491 | 616305 |
HP:0001251 | HP:0001251 | Ataxia | 0 | FRMPD4 CL E G H | 9758 | 300983 | Mental retardation, X-linked 104 | 300983 | C4310817 | OMIM | 1 | | 318 | 29007 | 300838 |
HP:0001251 | HP:0001251 | Ataxia | 0 | FRMPD4 CL E G H | 9758 | 300983 | Mental retardation, X-linked 104 | 300983 | C4310817 | OMIM | 1 | | 336 | 29007 | 300838 |
HP:0001251 | HP:0001251 | Ataxia | 0 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 109 | 3999 | 134790 |
HP:0001251 | HP:0001251 | Ataxia | 0 | FTL CL E G H | 2512 | 606159 | Neuroferritinopathy | 606159 | C1853578 | OMIM | 1 | | 138 | 3999 | 134790 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GABRB1 CL E G H | 2560 | 617153 | Epileptic encephalopathy, early infantile, 45 | 617153 | C4310691 | OMIM | 1 | | 49 | 4081 | 137190 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GABRB1 CL E G H | 2560 | 617153 | Epileptic encephalopathy, early infantile, 45 | 617153 | C4310691 | OMIM | 1 | | 96 | 4081 | 137190 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 321 | 4082 | 600232 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GABRB2 CL E G H | 2561 | 617829 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | 617829 | CN757794 | OMIM | 1 | | 358 | 4082 | 600232 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GABRB3 CL E G H | 2562 | 617113 | Epileptic encephalopathy, early infantile, 43 | 617113 | C4310712 | OMIM | 1 | | 645 | 4083 | 137192 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GABRB3 CL E G H | 2562 | 617113 | Epileptic encephalopathy, early infantile, 43 | 617113 | C4310712 | OMIM | 1 | | 691 | 4083 | 137192 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 425 | 4087 | 137164 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 480 | 4087 | 137164 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 390 | 4136 | 601240 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GAMT CL E G H | 2593 | 612736 | Deficiency of guanidinoacetate methyltransferase | 612736 | C0574080 | OMIM | 1 | | 443 | 4136 | 601240 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | 261 | 4177 | 606463 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GBA CL E G H | 2629 | 77261 | | | | ORPHA | 1 | | 269 | 4177 | 606463 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | 261 | 4177 | 606463 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GBA CL E G H | 2629 | 231000 | Subacute neuronopathic Gaucher's disease | 231000 | C0268251 | OMIM | 1 | | 269 | 4177 | 606463 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GFAP CL E G H | 2670 | 203450 | Alexander's disease | 203450 | C0270726 | OMIM | 1 | | 284 | 4235 | 137780 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GFAP CL E G H | 2670 | 203450 | Alexander's disease | 203450 | C0270726 | OMIM | 1 | | 316 | 4235 | 137780 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 169 | 4274 | 121014 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 1 | | 191 | 4274 | 121014 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GJA1 CL E G H | 2697 | 164200 | Oculodentodigital dysplasia | 164200 | C0812437 | OMIM | 1 | | 169 | 4274 | 121014 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GJA1 CL E G H | 2697 | 164200 | Oculodentodigital dysplasia | 164200 | C0812437 | OMIM | 1 | | 191 | 4274 | 121014 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 1 | | 174 | 17494 | 608803 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GJC2 CL E G H | 57165 | 320401 | | | | ORPHA | 1 | | 221 | 17494 | 608803 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 174 | 17494 | 608803 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 221 | 17494 | 608803 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GLB1 CL E G H | 2720 | 230600 | GM1 gangliosidosis type 2 | 230600 | C0268272 | OMIM | 1 | | 507 | 4298 | 611458 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GLB1 CL E G H | 2720 | 230600 | GM1 gangliosidosis type 2 | 230600 | C0268272 | OMIM | 1 | | 596 | 4298 | 611458 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 299 | 4326 | 138491 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GLRA1 CL E G H | 2741 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 342 | 4326 | 138491 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 157 | 4329 | 138492 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GLRB CL E G H | 2743 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 239 | 4329 | 138492 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 203 | 22932 | 615320 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 234 | 22932 | 615320 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 217 | 4431 | 604027 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GOSR2 CL E G H | 9570 | 614018 | Epilepsy, progressive myoclonic 6 | 614018 | C3279627 | OMIM | 1 | | 252 | 4431 | 604027 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 276 | 15465 | 603930 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GPHN CL E G H | 10243 | 3197 | Lateral body wall defect | | | ORPHA | 1 | | 374 | 15465 | 603930 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GPI CL E G H | 2821 | 613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | 613470 | C3150730 | OMIM | 1 | | 69 | 4458 | 172400 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GPI CL E G H | 2821 | 613470 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | 613470 | C3150730 | OMIM | 1 | | 77 | 4458 | 172400 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 302 | 4601 | 138945 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GRN CL E G H | 2896 | 614706 | Ceroid lipofuscinosis, neuronal, 11 | 614706 | C3539123 | OMIM | 1 | | 358 | 4601 | 138945 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 122 | 4624 | 601002 |
HP:0001251 | HP:0001251 | Ataxia | 0 | GSS CL E G H | 2937 | 266130 | Gluthathione synthetase deficiency | 266130 | C0398746 | OMIM | 1 | | 144 | 4624 | 601002 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 76 | 21033 | 610876 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HACE1 CL E G H | 57531 | 464282 | | | | ORPHA | 1 | | 91 | 21033 | 610876 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HACE1 CL E G H | 57531 | 616756 | Spastic paraplegia and psychomotor retardation with or without seizures | 616756 | C4225215 | OMIM | 1 | | 76 | 21033 | 610876 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HACE1 CL E G H | 57531 | 616756 | Spastic paraplegia and psychomotor retardation with or without seizures | 616756 | C4225215 | OMIM | 1 | | 91 | 21033 | 610876 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HARS CL E G H | 3035 | 231183 | | | | ORPHA | 1 | | | 4816 | 142810 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HEPACAM CL E G H | 220296 | 604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | 604004 | C1858854 | OMIM | 1 | | 206 | 26361 | 611642 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HEPACAM CL E G H | 220296 | 604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | 604004 | C1858854 | OMIM | 1 | | 231 | 26361 | 611642 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HEPACAM CL E G H | 220296 | 613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2a | 613925 | C3151355 | OMIM | 1 | | 206 | 26361 | 611642 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HEPACAM CL E G H | 220296 | 613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2a | 613925 | C3151355 | OMIM | 1 | | 231 | 26361 | 611642 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 361 | 4879 | 606873 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HEXB CL E G H | 3074 | 268800 | Sandhoff disease | 268800 | C0036161 | OMIM | 1 | | 397 | 4879 | 606873 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 186 | 5042 | 300610 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HNRNPH2 CL E G H | 3188 | 300986 | Mental retardation, X-linked, syndromic, Bain type | 300986 | C4310814 | OMIM | 1 | | 191 | 5042 | 300610 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 164 | 9476 | 602194 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HTRA1 CL E G H | 5654 | 600142 | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | 600142 | C1838577 | OMIM | 1 | | 196 | 9476 | 602194 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 177 | 26558 | 610693 |
HP:0001251 | HP:0001251 | Ataxia | 0 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 199 | 26558 | 610693 |
HP:0001251 | HP:0001251 | Ataxia | 0 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 851 | 29077 | 614620 |
HP:0001251 | HP:0001251 | Ataxia | 0 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 1098 | 29077 | 614620 |
HP:0001251 | HP:0001251 | Ataxia | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 1 | | 466 | 21474 | 613037 |
HP:0001251 | HP:0001251 | Ataxia | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 1 | | 559 | 21474 | 613037 |
HP:0001251 | HP:0001251 | Ataxia | 0 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 466 | 21474 | 613037 |
HP:0001251 | HP:0001251 | Ataxia | 0 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 559 | 21474 | 613037 |
HP:0001251 | HP:0001251 | Ataxia | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 466 | 21474 | 613037 |
HP:0001251 | HP:0001251 | Ataxia | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 559 | 21474 | 613037 |
HP:0001251 | HP:0001251 | Ataxia | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 466 | 21474 | 613037 |
HP:0001251 | HP:0001251 | Ataxia | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 559 | 21474 | 613037 |
HP:0001251 | HP:0001251 | Ataxia | 0 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 145 | 33882 | 607875 |
HP:0001251 | HP:0001251 | Ataxia | 0 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 153 | 33882 | 607875 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ITM2B CL E G H | 9445 | 117300 | Dementia, familial Danish | 117300 | C1861735 | OMIM | 1 | | 71 | 6174 | 603904 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ITM2B CL E G H | 9445 | 117300 | Dementia, familial Danish | 117300 | C1861735 | OMIM | 1 | | 95 | 6174 | 603904 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ITPR1 CL E G H | 3708 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 895 | 6180 | 147265 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ITPR1 CL E G H | 3708 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 969 | 6180 | 147265 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ITPR1 CL E G H | 3708 | 206700 | Gillespie syndrome | 206700 | C0431401 | OMIM | 1 | | 895 | 6180 | 147265 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ITPR1 CL E G H | 3708 | 206700 | Gillespie syndrome | 206700 | C0431401 | OMIM | 1 | | 969 | 6180 | 147265 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KCNA1 CL E G H | 3736 | 972 | | | | ORPHA | 1 | | 390 | 6218 | 176260 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KCNA1 CL E G H | 3736 | 972 | | | | ORPHA | 1 | | 438 | 6218 | 176260 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 248 | 6220 | 176262 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KCNA2 CL E G H | 3737 | 616366 | Epileptic encephalopathy, early infantile, 32 | 616366 | C4225350 | OMIM | 1 | | 279 | 6220 | 176262 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 289 | 6256 | 602208 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KCNJ10 CL E G H | 3766 | 199343 | | | | ORPHA | 1 | | 319 | 6256 | 602208 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | | 29068 | 616650 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 338 | 19960 | 610178 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 662 | 19960 | 610178 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KIAA0753 CL E G H | 9851 | 2754 | | | | ORPHA | 1 | | 122 | 29110 | 617112 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KIAA0753 CL E G H | 9851 | 2754 | | | | ORPHA | 1 | | 184 | 29110 | 617112 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KIF1A CL E G H | 547 | 101010 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KIF7 CL E G H | 374654 | 2754 | | | | ORPHA | 1 | | 540 | 30497 | 611254 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KIF7 CL E G H | 374654 | 2754 | | | | ORPHA | 1 | | 813 | 30497 | 611254 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 1 | | 248 | 37212 | 612105 |
HP:0001251 | HP:0001251 | Ataxia | 0 | KLLN CL E G H | 100144748 | 201 | | | | ORPHA | 1 | | 270 | 37212 | 612105 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 188 | 6556 | 604407 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 228 | 6556 | 604407 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LMBRD1 CL E G H | 55788 | 79284 | | | | ORPHA | 1 | | 157 | 23038 | 612625 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LMBRD1 CL E G H | 55788 | 79284 | | | | ORPHA | 1 | | 193 | 23038 | 612625 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LMNB1 CL E G H | 4001 | 99027 | | | | ORPHA | 1 | | 129 | 6637 | 150340 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LMNB1 CL E G H | 4001 | 99027 | | | | ORPHA | 1 | | 151 | 6637 | 150340 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 129 | 6637 | 150340 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LMNB1 CL E G H | 4001 | 169500 | Leukodystrophy, adult-onset, autosomal dominant | 169500 | C1868512 | OMIM | 1 | | 151 | 6637 | 150340 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 811 | 15714 | 607544 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 891 | 15714 | 607544 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 63 | 28072 | 615831 |
HP:0001251 | HP:0001251 | Ataxia | 0 | LYRM7 CL E G H | 90624 | 615838 | Mitochondrial complex III deficiency, nuclear type 8 | 615838 | C4014440 | OMIM | 1 | | 66 | 28072 | 615831 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MAST1 CL E G H | 22983 | 618273 | 618273 | 618273 | | OMIM | 1 | | 50 | 19034 | 612256 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MAST1 CL E G H | 22983 | 618273 | 618273 | 618273 | | OMIM | 1 | | 57 | 19034 | 612256 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MBD5 CL E G H | 55777 | 228402 | | | | ORPHA | 1 | | 878 | 20444 | 611472 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MBD5 CL E G H | 55777 | 228402 | | | | ORPHA | 1 | | 993 | 20444 | 611472 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MBD5 CL E G H | 55777 | 156200 | Mental retardation, autosomal dominant 1 | 156200 | C1969562 | OMIM | 1 | | 878 | 20444 | 611472 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MBD5 CL E G H | 55777 | 156200 | Mental retardation, autosomal dominant 1 | 156200 | C1969562 | OMIM | 1 | | 993 | 20444 | 611472 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 418 | 13356 | 605248 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 448 | 13356 | 605248 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MECP2 CL E G H | 4204 | 778 | | | | ORPHA | 1 | | 1603 | 6990 | 300005 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MECP2 CL E G H | 4204 | 778 | | | | ORPHA | 1 | | 1684 | 6990 | 300005 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1603 | 6990 | 300005 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MECP2 CL E G H | 4204 | 300260 | MECP2 duplication syndrome | 300260 | C1846058 | OMIM | 1 | | 1684 | 6990 | 300005 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1603 | 6990 | 300005 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MECP2 CL E G H | 4204 | 300055 | Mental retardation, X-linked, syndromic 13 | 300055 | C1968550 | OMIM | 1 | | 1684 | 6990 | 300005 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 60 | 19691 | 608205 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MECR CL E G H | 51102 | 617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | 617282 | C4310634 | OMIM | 1 | | 73 | 19691 | 608205 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MED13L CL E G H | 23389 | 616789 | Mental retardation and distinctive facial features with or without cardiac defects | 616789 | C4225208 | OMIM | 1 | | 566 | 22962 | 608771 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MED13L CL E G H | 23389 | 616789 | Mental retardation and distinctive facial features with or without cardiac defects | 616789 | C4225208 | OMIM | 1 | | 596 | 22962 | 608771 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 518 | 28486 | 611124 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 595 | 28486 | 611124 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MICOS13 CL E G H | 125988 | 67047 | | | | ORPHA | 1 | | 19 | 33702 | 616658 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MICOS13 CL E G H | 125988 | 67047 | | | | ORPHA | 1 | | 20 | 33702 | 616658 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 1 | | 477 | 7121 | 609883 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 1 | | 553 | 7121 | 609883 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 477 | 7121 | 609883 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 553 | 7121 | 609883 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MKS1 CL E G H | 54903 | 617121 | Joubert syndrome 28 | 617121 | C4310705 | OMIM | 1 | | 477 | 7121 | 609883 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MKS1 CL E G H | 54903 | 617121 | Joubert syndrome 28 | 617121 | C4310705 | OMIM | 1 | | 553 | 7121 | 609883 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MLC1 CL E G H | 23209 | 604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | 604004 | C1858854 | OMIM | 1 | | 480 | 17082 | 605908 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MLC1 CL E G H | 23209 | 604004 | Megalencephalic leukoencephalopathy with subcortical cysts 1 | 604004 | C1858854 | OMIM | 1 | | 507 | 17082 | 605908 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MPDU1 CL E G H | 9526 | 609180 | Congenital disorder of glycosylation type 1F | 609180 | C1836669 | OMIM | 1 | | 95 | 7207 | 604041 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MPDU1 CL E G H | 9526 | 609180 | Congenital disorder of glycosylation type 1F | 609180 | C1836669 | OMIM | 1 | | 100 | 7207 | 604041 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 155 | 7224 | 137960 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MPV17 CL E G H | 4358 | 256810 | Navajo neurohepatopathy | 256810 | C1850406 | OMIM | 1 | | 170 | 7224 | 137960 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ATP6 CL E G H | 4508 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7414 | 516060 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ATP6 CL E G H | 4508 | 551500 | Neuropathy ataxia retinitis pigmentosa syndrome | 551500 | C1328349 | OMIM | 1 | | | 7414 | 516060 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ATP8 CL E G H | 4509 | 480 | | | | ORPHA | 1 | | | 7415 | 516070 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-CO1 CL E G H | 4512 | 550 | | | | ORPHA | 1 | | | 7419 | 516030 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-CO2 CL E G H | 4513 | 550 | | | | ORPHA | 1 | | | 7421 | 516040 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-CO3 CL E G H | 4514 | 550 | | | | ORPHA | 1 | | | 7422 | 516050 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-CO3 CL E G H | 4514 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7422 | 516050 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-CYB CL E G H | 4519 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7427 | 516020 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND1 CL E G H | 4535 | 550 | | | | ORPHA | 1 | | | 7455 | 516000 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND1 CL E G H | 4535 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7455 | 516000 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND2 CL E G H | 4536 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7456 | 516001 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND4 CL E G H | 4538 | 550 | | | | ORPHA | 1 | | | 7459 | 516003 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND4 CL E G H | 4538 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7459 | 516003 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND4L CL E G H | 4539 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7460 | 516004 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND5 CL E G H | 4540 | 550 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND5 CL E G H | 4540 | 551 | | | | ORPHA | 1 | | | 7461 | 516005 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND5 CL E G H | 4540 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7461 | 516005 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND6 CL E G H | 4541 | 550 | | | | ORPHA | 1 | | | 7462 | 516006 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-ND6 CL E G H | 4541 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7462 | 516006 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-RNR1 CL E G H | 4549 | 551 | | | | ORPHA | 1 | | | 7470 | 180450 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TF CL E G H | 4558 | 550 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TF CL E G H | 4558 | 551 | | | | ORPHA | 1 | | | 7481 | 590070 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TF CL E G H | 4558 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7481 | 590070 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TH CL E G H | 4564 | 550 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TH CL E G H | 4564 | 551 | | | | ORPHA | 1 | | | 7487 | 590040 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TI CL E G H | 4565 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7488 | 590045 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TK CL E G H | 4566 | 551 | | | | ORPHA | 1 | | | 7489 | 590060 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TK CL E G H | 4566 | 1349 | Chromosome 9, partial monosomy 9p | | C2931695 | ORPHA | 1 | | | 7489 | 590060 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TK CL E G H | 4566 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7489 | 590060 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TL1 CL E G H | 4567 | 480 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TL1 CL E G H | 4567 | 550 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TL1 CL E G H | 4567 | 551 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TL1 CL E G H | 4567 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7490 | 590050 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TP CL E G H | 4571 | 551 | | | | ORPHA | 1 | | | 7494 | 590075 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TP CL E G H | 4571 | 545000 | Myoclonus with epilepsy with ragged red fibers | 545000 | C0162672 | OMIM | 1 | | | 7494 | 590075 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TQ CL E G H | 4572 | 550 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TQ CL E G H | 4572 | 551 | | | | ORPHA | 1 | | | 7495 | 590030 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TS1 CL E G H | 4574 | 550 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TS1 CL E G H | 4574 | 551 | | | | ORPHA | 1 | | | 7497 | 590080 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TS2 CL E G H | 4575 | 550 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TS2 CL E G H | 4575 | 551 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TS2 CL E G H | 4575 | 231183 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MT-TW CL E G H | 4578 | 550 | | | | ORPHA | 1 | | | 7501 | 590095 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MTTP CL E G H | 4547 | 200100 | Abetalipoproteinaemia | 200100 | C0000744 | OMIM | 1 | | 442 | 7467 | 157147 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MTTP CL E G H | 4547 | 200100 | Abetalipoproteinaemia | 200100 | C0000744 | OMIM | 1 | | 550 | 7467 | 157147 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MTTP CL E G H | 4547 | 14 | Bilateral squint | | CN228276 | ORPHA | 1 | | 442 | 7467 | 157147 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MTTP CL E G H | 4547 | 14 | Bilateral squint | | CN228276 | ORPHA | 1 | | 550 | 7467 | 157147 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MVK CL E G H | 4598 | 29 | | | | ORPHA | 1 | | 371 | 7530 | 251170 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MVK CL E G H | 4598 | 29 | | | | ORPHA | 1 | | 401 | 7530 | 251170 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 1 | | 222 | 7602 | 160777 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MYO5A CL E G H | 4644 | 79476 | | | | ORPHA | 1 | | 229 | 7602 | 160777 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MYO7A CL E G H | 4647 | 231169 | | | | ORPHA | 1 | | 2223 | 7606 | 276903 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MYO7A CL E G H | 4647 | 231169 | | | | ORPHA | 1 | | 2516 | 7606 | 276903 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 1 | | 164 | 7608 | 604875 |
HP:0001251 | HP:0001251 | Ataxia | 0 | MYO9A CL E G H | 4649 | 98914 | | | | ORPHA | 1 | | 168 | 7608 | 604875 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 74 | 19237 | 605202 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 102 | 19237 | 605202 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 61 | 18453 | 608862 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NAXE CL E G H | 128240 | 617186 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | 617186 | C4310675 | OMIM | 1 | | 91 | 18453 | 608862 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 166 | 28625 | 612392 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NDUFAF6 CL E G H | 137682 | 618239 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 | 618239 | | OMIM | 1 | | 185 | 28625 | 612392 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NDUFS1 CL E G H | 4719 | 618226 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | 618226 | | OMIM | 1 | | 263 | 7707 | 157655 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NDUFS1 CL E G H | 4719 | 618226 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | 618226 | | OMIM | 1 | | 301 | 7707 | 157655 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 97 | 7711 | 602694 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 101 | 7711 | 602694 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 130 | 7714 | 601825 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NDUFS7 CL E G H | 374291 | 618224 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | 618224 | | OMIM | 1 | | 142 | 7714 | 601825 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 174 | 7716 | 161015 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NDUFV1 CL E G H | 4723 | 618225 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 | 618225 | | OMIM | 1 | | 200 | 7716 | 161015 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 171 | 12768 | 606026 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 175 | 12768 | 606026 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 115 | 7758 | 608272 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 134 | 7758 | 608272 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NEXMIF CL E G H | 340533 | 300912 | Mental retardation, X-linked 98 | 300912 | C3806730 | OMIM | 1 | | 650 | 29433 | 300524 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NEXMIF CL E G H | 340533 | 300912 | Mental retardation, X-linked 98 | 300912 | C3806730 | OMIM | 1 | | 736 | 29433 | 300524 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NF2 CL E G H | 4771 | 637 | | | | ORPHA | 1 | | 1016 | 7773 | 607379 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NF2 CL E G H | 4771 | 637 | | | | ORPHA | 1 | | 1167 | 7773 | 607379 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 170 | 11825 | 600635 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 194 | 11825 | 600635 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 119 | 19321 | 605955 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NKX6-2 CL E G H | 84504 | 527497 | | | | ORPHA | 1 | | 151 | 19321 | 605955 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NME1 CL E G H | 4830 | 256700 | Neuroblastoma | 256700 | C0027819 | OMIM | 1 | | 14 | 7849 | 156490 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 41 | 7869 | 605235 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NOL3 CL E G H | 8996 | 614937 | Myoclonus, familial cortical | 614937 | C3539916 | OMIM | 1 | | 42 | 7869 | 605235 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 1 | | 188 | 7871 | 300084 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NONO CL E G H | 4841 | 300967 | Mental retardation, X-linked, syndromic 34 | 300967 | C4225417 | OMIM | 1 | | 193 | 7871 | 300084 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 1085 | 7897 | 607623 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 1288 | 7897 | 607623 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 127 | 14537 | 601015 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 147 | 14537 | 601015 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 1 | | 532 | 7905 | 607100 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 1 | | 626 | 7905 | 607100 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 532 | 7905 | 607100 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NPHP1 CL E G H | 4867 | 609583 | Joubert syndrome 4 | 609583 | C1846790 | OMIM | 1 | | 626 | 7905 | 607100 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 249 | 12766 | 602952 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 262 | 12766 | 602952 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NUBPL CL E G H | 80224 | 618242 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 618242 | | OMIM | 1 | | 222 | 20278 | 613621 |
HP:0001251 | HP:0001251 | Ataxia | 0 | NUBPL CL E G H | 80224 | 618242 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 | 618242 | | OMIM | 1 | | 231 | 20278 | 613621 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OFD1 CL E G H | 8481 | 2750 | | | | ORPHA | 1 | | 647 | 2567 | 300170 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OFD1 CL E G H | 8481 | 2750 | | | | ORPHA | 1 | | 723 | 2567 | 300170 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OFD1 CL E G H | 8481 | 2754 | | | | ORPHA | 1 | | 647 | 2567 | 300170 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OFD1 CL E G H | 8481 | 2754 | | | | ORPHA | 1 | | 723 | 2567 | 300170 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 77 | 8124 | 613022 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OGDH CL E G H | 4967 | 31 | Serpiginous choroiditis | | | ORPHA | 1 | | 90 | 8124 | 613022 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OPA3 CL E G H | 80207 | 67036 | | | | ORPHA | 1 | | 372 | 8142 | 606580 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OPA3 CL E G H | 80207 | 67036 | | | | ORPHA | 1 | | 401 | 8142 | 606580 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OPA3 CL E G H | 80207 | 67047 | | | | ORPHA | 1 | | 372 | 8142 | 606580 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OPA3 CL E G H | 80207 | 67047 | | | | ORPHA | 1 | | 401 | 8142 | 606580 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OPA3 CL E G H | 80207 | 258501 | 3-Methylglutaconic aciduria type 3 | 258501 | C0574084 | OMIM | 1 | | 372 | 8142 | 606580 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OPA3 CL E G H | 80207 | 258501 | 3-Methylglutaconic aciduria type 3 | 258501 | C0574084 | OMIM | 1 | | 401 | 8142 | 606580 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OTC CL E G H | 5009 | 311250 | Ornithine carbamoyltransferase deficiency | 311250 | C0268542 | OMIM | 1 | | 741 | 8512 | 300461 |
HP:0001251 | HP:0001251 | Ataxia | 0 | OTC CL E G H | 5009 | 311250 | Ornithine carbamoyltransferase deficiency | 311250 | C0268542 | OMIM | 1 | | 776 | 8512 | 300461 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 263 | 15894 | 606157 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PANK2 CL E G H | 80025 | 234200 | Pigmentary pallidal degeneration | 234200 | C0018523 | OMIM | 1 | | 331 | 15894 | 606157 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PAX6 CL E G H | 5080 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 577 | 8620 | 607108 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PAX6 CL E G H | 5080 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 632 | 8620 | 607108 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PCDH15 CL E G H | 65217 | 231169 | | | | ORPHA | 1 | | 1709 | 14674 | 605514 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PCDH15 CL E G H | 65217 | 231169 | | | | ORPHA | 1 | | 1985 | 14674 | 605514 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 921 | 14270 | 300460 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1038 | 14270 | 300460 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PCNA CL E G H | 5111 | 615919 | Ataxia-telangiectasia-like disorder 2 | 615919 | C4014676 | OMIM | 1 | | 40 | 8729 | 176740 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PDE6D CL E G H | 5147 | 2754 | | | | ORPHA | 1 | | 41 | 8788 | 602676 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PDE6D CL E G H | 5147 | 2754 | | | | ORPHA | 1 | | 57 | 8788 | 602676 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 229 | 21350 | 608769 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 264 | 21350 | 608769 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 43 | 40038 | 614770 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 51 | 40038 | 614770 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX1 CL E G H | 5189 | 772 | | | | ORPHA | 1 | | 793 | 8850 | 602136 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX1 CL E G H | 5189 | 772 | | | | ORPHA | 1 | | 951 | 8850 | 602136 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX10 CL E G H | 5192 | 772 | | | | ORPHA | 1 | | 480 | 8851 | 602859 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX10 CL E G H | 5192 | 772 | | | | ORPHA | 1 | | 578 | 8851 | 602859 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 480 | 8851 | 602859 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX10 CL E G H | 5192 | 614871 | Peroxisome biogenesis disorder 6B | 614871 | C3553948 | OMIM | 1 | | 578 | 8851 | 602859 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX11B CL E G H | 8799 | 772 | | | | ORPHA | 1 | | 284 | 8853 | 603867 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX11B CL E G H | 8799 | 772 | | | | ORPHA | 1 | | 332 | 8853 | 603867 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX12 CL E G H | 5193 | 772 | | | | ORPHA | 1 | | 245 | 8854 | 601758 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX12 CL E G H | 5193 | 772 | | | | ORPHA | 1 | | 320 | 8854 | 601758 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX13 CL E G H | 5194 | 772 | | | | ORPHA | 1 | | 234 | 8855 | 601789 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX13 CL E G H | 5194 | 772 | | | | ORPHA | 1 | | 342 | 8855 | 601789 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX14 CL E G H | 5195 | 772 | | | | ORPHA | 1 | | 234 | 8856 | 601791 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX14 CL E G H | 5195 | 772 | | | | ORPHA | 1 | | 311 | 8856 | 601791 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX16 CL E G H | 9409 | 772 | | | | ORPHA | 1 | | 203 | 8857 | 603360 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX16 CL E G H | 9409 | 772 | | | | ORPHA | 1 | | 282 | 8857 | 603360 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX19 CL E G H | 5824 | 772 | | | | ORPHA | 1 | | 181 | 9713 | 600279 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX19 CL E G H | 5824 | 772 | | | | ORPHA | 1 | | 249 | 9713 | 600279 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX2 CL E G H | 5828 | 772 | | | | ORPHA | 1 | | 254 | 9717 | 170993 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX2 CL E G H | 5828 | 772 | | | | ORPHA | 1 | | 319 | 9717 | 170993 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX26 CL E G H | 55670 | 772 | | | | ORPHA | 1 | | 315 | 22965 | 608666 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX26 CL E G H | 55670 | 772 | | | | ORPHA | 1 | | 392 | 22965 | 608666 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX3 CL E G H | 8504 | 772 | | | | ORPHA | 1 | | 158 | 8858 | 603164 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX3 CL E G H | 8504 | 772 | | | | ORPHA | 1 | | 219 | 8858 | 603164 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX5 CL E G H | 5830 | 772 | | | | ORPHA | 1 | | 406 | 9719 | 600414 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX5 CL E G H | 5830 | 772 | | | | ORPHA | 1 | | 563 | 9719 | 600414 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX6 CL E G H | 5190 | 772 | | | | ORPHA | 1 | | 645 | 8859 | 601498 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX6 CL E G H | 5190 | 772 | | | | ORPHA | 1 | | 855 | 8859 | 601498 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 645 | 8859 | 601498 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX6 CL E G H | 5190 | 614863 | Peroxisome biogenesis disorder 4B | 614863 | C3553937 | OMIM | 1 | | 855 | 8859 | 601498 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 310 | 8860 | 601757 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 363 | 8860 | 601757 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 310 | 8860 | 601757 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PEX7 CL E G H | 5191 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 363 | 8860 | 601757 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PGK1 CL E G H | 5230 | 300653 | Phosphoglycerate kinase 1 deficiency | 300653 | C1970848 | OMIM | 1 | | 228 | 8896 | 311800 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PGK1 CL E G H | 5230 | 300653 | Phosphoglycerate kinase 1 deficiency | 300653 | C1970848 | OMIM | 1 | | 245 | 8896 | 311800 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 163 | 8907 | 172100 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PGM3 CL E G H | 5238 | 615816 | Immunodeficiency 23 | 615816 | C4014371 | OMIM | 1 | | 217 | 8907 | 172100 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 201 | 8940 | 602026 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 260 | 8940 | 602026 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 201 | 8940 | 602026 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PHYH CL E G H | 5264 | 266500 | Phytanic acid storage disease | 266500 | C0034960 | OMIM | 1 | | 260 | 8940 | 602026 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 96 | 23352 | 607532 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 104 | 23352 | 607532 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIBF1 CL E G H | 10464 | 617767 | JOUBERT SYNDROME 33 | 617767 | C4540389 | OMIM | 1 | | 96 | 23352 | 607532 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIBF1 CL E G H | 10464 | 617767 | JOUBERT SYNDROME 33 | 617767 | C4540389 | OMIM | 1 | | 104 | 23352 | 607532 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIGG CL E G H | 54872 | 616917 | Mental retardation, autosomal recessive 53 | 616917 | C4310794 | OMIM | 1 | | 572 | 25985 | 616918 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIGG CL E G H | 54872 | 616917 | Mental retardation, autosomal recessive 53 | 616917 | C4310794 | OMIM | 1 | | 729 | 25985 | 616918 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 118 | 14938 | 610272 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIGT CL E G H | 51604 | 615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 | C3809356 | OMIM | 1 | | 142 | 14938 | 610272 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIK3CA CL E G H | 5290 | 201 | | | | ORPHA | 1 | | 544 | 8975 | 171834 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIK3CA CL E G H | 5290 | 201 | | | | ORPHA | 1 | | 613 | 8975 | 171834 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PIK3R5 CL E G H | 23533 | 64753 | | | | ORPHA | 1 | | 48 | 30035 | 611317 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 431 | 9039 | 603604 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 513 | 9039 | 603604 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 40 | 24501 | 609526 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PLEKHG4 CL E G H | 25894 | 98765 | | | | ORPHA | 1 | | 41 | 24501 | 609526 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 335 | 9086 | 300401 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 365 | 9086 | 300401 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 491 | 9115 | 601785 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 542 | 9115 | 601785 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PMPCA CL E G H | 23203 | 1170 | | | | ORPHA | 1 | | 128 | 18667 | 613036 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PMPCA CL E G H | 23203 | 1170 | | | | ORPHA | 1 | | 134 | 18667 | 613036 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNKP CL E G H | 11284 | 616267 | Ataxia-oculomotor apraxia 4 | 616267 | C4225397 | OMIM | 1 | | 680 | 9154 | 605610 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNKP CL E G H | 11284 | 616267 | Ataxia-oculomotor apraxia 4 | 616267 | C4225397 | OMIM | 1 | | 769 | 9154 | 605610 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNP CL E G H | 4860 | 613179 | Purine-nucleoside phosphorylase deficiency | 613179 | C0268125 | OMIM | 1 | | 166 | 7892 | 164050 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNP CL E G H | 4860 | 613179 | Purine-nucleoside phosphorylase deficiency | 613179 | C0268125 | OMIM | 1 | | 187 | 7892 | 164050 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNPLA6 CL E G H | 10908 | 1180 | | | | ORPHA | 1 | | 669 | 16268 | 603197 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNPLA6 CL E G H | 10908 | 1180 | | | | ORPHA | 1 | | 808 | 16268 | 603197 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 1 | | 669 | 16268 | 603197 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNPLA6 CL E G H | 10908 | 215470 | Boucher Neuhauser syndrome | 215470 | C1859093 | OMIM | 1 | | 808 | 16268 | 603197 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNPLA6 CL E G H | 10908 | 1173 | CDG syndrome type 3 | | | ORPHA | 1 | | 669 | 16268 | 603197 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNPLA6 CL E G H | 10908 | 1173 | CDG syndrome type 3 | | | ORPHA | 1 | | 808 | 16268 | 603197 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNPLA6 CL E G H | 10908 | 245800 | Laurence-Moon syndrome | 245800 | C0023138 | OMIM | 1 | | 669 | 16268 | 603197 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PNPLA6 CL E G H | 10908 | 245800 | Laurence-Moon syndrome | 245800 | C0023138 | OMIM | 1 | | 808 | 16268 | 603197 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 1470 | 9179 | 174763 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 1712 | 9179 | 174763 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLG CL E G H | 5428 | 613662 | Mitochondrial DNA depletion syndrome 4B, MNGIE type | 613662 | C3150914 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLG CL E G H | 5428 | 613662 | Mitochondrial DNA depletion syndrome 4B, MNGIE type | 613662 | C3150914 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLR1C CL E G H | 9533 | 88637 | | | | ORPHA | 1 | | 1019 | 20194 | 610060 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLR1C CL E G H | 9533 | 88637 | | | | ORPHA | 1 | | 1131 | 20194 | 610060 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLR3A CL E G H | 11128 | 88637 | | | | ORPHA | 1 | | 484 | 30074 | 614258 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLR3A CL E G H | 11128 | 88637 | | | | ORPHA | 1 | | 654 | 30074 | 614258 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLR3B CL E G H | 55703 | 88637 | | | | ORPHA | 1 | | 297 | 30348 | 614366 |
HP:0001251 | HP:0001251 | Ataxia | 0 | POLR3B CL E G H | 55703 | 88637 | | | | ORPHA | 1 | | 326 | 30348 | 614366 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 420 | 9325 | 600722 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 454 | 9325 | 600722 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRF1 CL E G H | 5551 | 603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 | C1863727 | OMIM | 1 | | 294 | 9360 | 170280 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRF1 CL E G H | 5551 | 603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | 603553 | C1863727 | OMIM | 1 | | 354 | 9360 | 170280 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 131 | 9449 | 176640 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRNP CL E G H | 5621 | 600072 | Fatal familial insomnia | 600072 | C0206042 | OMIM | 1 | | 146 | 9449 | 176640 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 303 | 9462 | 311850 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 321 | 9462 | 311850 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRPS1 CL E G H | 5631 | 1187 | Cerebellar agenesis | | | ORPHA | 1 | | 303 | 9462 | 311850 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRPS1 CL E G H | 5631 | 1187 | Cerebellar agenesis | | | ORPHA | 1 | | 321 | 9462 | 311850 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRPS1 CL E G H | 5631 | 300661 | Phosphoribosylpyrophosphate synthetase superactivity | 300661 | C1970827 | OMIM | 1 | | 303 | 9462 | 311850 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRPS1 CL E G H | 5631 | 300661 | Phosphoribosylpyrophosphate synthetase superactivity | 300661 | C1970827 | OMIM | 1 | | 321 | 9462 | 311850 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRRT2 CL E G H | 112476 | 569 | | | | ORPHA | 1 | | 597 | 30500 | 614386 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRRT2 CL E G H | 112476 | 569 | | | | ORPHA | 1 | | 659 | 30500 | 614386 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRRT2 CL E G H | 112476 | 31709 | | | | ORPHA | 1 | | 597 | 30500 | 614386 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PRRT2 CL E G H | 112476 | 31709 | | | | ORPHA | 1 | | 659 | 30500 | 614386 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PTEN CL E G H | 5728 | 201 | | | | ORPHA | 1 | | 2246 | 9588 | 601728 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PTEN CL E G H | 5728 | 201 | | | | ORPHA | 1 | | 2416 | 9588 | 601728 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PTEN CL E G H | 5728 | 65285 | | | | ORPHA | 1 | | 2246 | 9588 | 601728 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PTEN CL E G H | 5728 | 65285 | | | | ORPHA | 1 | | 2416 | 9588 | 601728 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 37 | 24265 | 608625 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 39 | 24265 | 608625 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 164 | 9689 | 612719 |
HP:0001251 | HP:0001251 | Ataxia | 0 | PTS CL E G H | 5805 | 261640 | 6-pyruvoyl-tetrahydropterin synthase deficiency | 261640 | C0878676 | OMIM | 1 | | 185 | 9689 | 612719 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RAD50 CL E G H | 10111 | 613078 | Nijmegen breakage syndrome-like disorder | 613078 | C2751318 | OMIM | 1 | | 2611 | 9816 | 604040 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RAD50 CL E G H | 10111 | 613078 | Nijmegen breakage syndrome-like disorder | 613078 | C2751318 | OMIM | 1 | | 2928 | 9816 | 604040 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 233 | 30220 | 611908 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RFT1 CL E G H | 91869 | 612015 | Congenital disorder of glycosylation type 1N | 612015 | C2677590 | OMIM | 1 | | 324 | 30220 | 611908 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RIPK4 CL E G H | 54101 | 1401 | | | | ORPHA | 1 | | 268 | 496 | 605706 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RIPK4 CL E G H | 54101 | 1401 | | | | ORPHA | 1 | | 272 | 496 | 605706 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RNASEH1 CL E G H | 246243 | 616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 | C4225312 | OMIM | 1 | | 86 | 18466 | 604123 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RNASEH1 CL E G H | 246243 | 616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | 616479 | C4225312 | OMIM | 1 | | 95 | 18466 | 604123 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RNF168 CL E G H | 165918 | 611943 | Riddle syndrome | 611943 | C2677792 | OMIM | 1 | | 147 | 26661 | 612688 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RNF168 CL E G H | 165918 | 611943 | Riddle syndrome | 611943 | C2677792 | OMIM | 1 | | 232 | 26661 | 612688 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RNF216 CL E G H | 54476 | 1173 | CDG syndrome type 3 | | | ORPHA | 1 | | 134 | 21698 | 609948 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RNF216 CL E G H | 54476 | 1173 | CDG syndrome type 3 | | | ORPHA | 1 | | 179 | 21698 | 609948 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 134 | 21698 | 609948 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RNF216 CL E G H | 54476 | 212840 | Gordon Holmes syndrome | 212840 | C1859305 | OMIM | 1 | | 179 | 21698 | 609948 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ROGDI CL E G H | 79641 | 226750 | Kohlschutter's syndrome | 226750 | C0406740 | OMIM | 1 | | 337 | 29478 | 614574 |
HP:0001251 | HP:0001251 | Ataxia | 0 | ROGDI CL E G H | 79641 | 226750 | Kohlschutter's syndrome | 226750 | C0406740 | OMIM | 1 | | 399 | 29478 | 614574 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RORA CL E G H | 6095 | 618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA | 618060 | CN252646 | OMIM | 1 | | 65 | 10258 | 600825 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RORA CL E G H | 6095 | 618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA | 618060 | CN252646 | OMIM | 1 | | 68 | 10258 | 600825 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 1 | | 794 | 29168 | 610937 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 1 | | 964 | 29168 | 610937 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 794 | 29168 | 610937 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 964 | 29168 | 610937 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 794 | 29168 | 610937 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 964 | 29168 | 610937 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 794 | 29168 | 610937 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RPGRIP1L CL E G H | 23322 | 611560 | Joubert syndrome 7 | 611560 | C1969053 | OMIM | 1 | | 964 | 29168 | 610937 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RPIA CL E G H | 22934 | 608611 | Deficiency of ribose-5-phosphate isomerase | 608611 | C1291609 | OMIM | 1 | | 64 | 10297 | 180430 |
HP:0001251 | HP:0001251 | Ataxia | 0 | RPIA CL |