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:0002066 | HP:0002066 | Gait ataxia | 0 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 222 | 25519 | 613726 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 214 | 25519 | 613726 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 219 | 560 | 300629 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 216 | 560 | 300629 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 258 | 15984 | 606350 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 236 | 15984 | 606350 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 179 | 779 | 608179 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 175 | 779 | 608179 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 179 | 779 | 608179 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 175 | 779 | 608179 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 103 | 3033 | 607462 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 96 | 3033 | 607462 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 687 | 801 | 182350 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 625 | 801 | 182350 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 687 | 801 | 182350 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 625 | 801 | 182350 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 101 | 10549 | 611150 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 99 | 10549 | 611150 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 101 | 10549 | 611150 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 99 | 10549 | 611150 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 52 | 10555 | 601517 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 50 | 10555 | 601517 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 72 | 10561 | 603680 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 76 | 10561 | 603680 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 35 | 24160 | 612051 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | BEAN1 CL E G H | 146227 | 117210 | Spinocerebellar ataxia 31 | 117210 | C1861736 | OMIM | 1 | | 35 | 24160 | 612051 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 847 | 21701 | 614506 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 725 | 21701 | 614506 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2326 | 1388 | 601011 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2047 | 1388 | 601011 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 357 | 1394 | 604065 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 374 | 1394 | 604065 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 100 | 1476 | 114220 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 84 | 1476 | 114220 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 85 | 1527 | 601047 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 81 | 1527 | 601047 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 265 | 19967 | 611204 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 258 | 19967 | 611204 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 202 | 20311 | 616327 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 191 | 20311 | 616327 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CLCN2 CL E G H | 1181 | 615651 | Leukoencephalopathy with ataxia | 615651 | C3810242 | OMIM | 1 | | 194 | 2020 | 600570 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CLCN2 CL E G H | 1181 | 615651 | Leukoencephalopathy with ataxia | 615651 | C3810242 | OMIM | 1 | | 163 | 2020 | 600570 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 137 | 25223 | 609825 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 171 | 25223 | 609825 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 59 | 25613 | 616120 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 90 | 9439 | 601184 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 86 | 9439 | 601184 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 90 | 9439 | 601184 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 86 | 9439 | 601184 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 215 | 15469 | 608375 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 173 | 15469 | 608375 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | DOCK3 CL E G H | 1795 | 618292 | 618292 | 618292 | | OMIM | 1 | | 46 | 2989 | 603123 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | DOCK3 CL E G H | 1795 | 618292 | 618292 | 618292 | | OMIM | 1 | | 43 | 2989 | 603123 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 174 | 3214 | 130610 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 170 | 3214 | 130610 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 196 | 3267 | 300161 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 213 | 14415 | 605512 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 178 | 14415 | 605512 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 1 | | 52 | 21308 | 611805 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 1 | | 49 | 21308 | 611805 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 52 | 21308 | 611805 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 49 | 21308 | 611805 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ERMARD CL E G H | 55780 | 75857 | | | | ORPHA | 1 | | 220 | 21056 | 615532 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ERMARD CL E G H | 55780 | 75857 | | | | ORPHA | 1 | | 191 | 21056 | 615532 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 169 | 3596 | 604269 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 174 | 3596 | 604269 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 190 | 3671 | 601515 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 187 | 3671 | 601515 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 391 | 24682 | 609144 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 326 | 24682 | 609144 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 322 | 3775 | 309550 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 317 | 3775 | 309550 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 322 | 3775 | 309550 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 317 | 3775 | 309550 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 131 | 3951 | 606829 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 131 | 3951 | 606829 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 262 | 18986 | 609471 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 246 | 18986 | 609471 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 257 | 4193 | 600225 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 315 | 4193 | 600225 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 227 | 4446 | 603048 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 95 | 4446 | 603048 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 151 | 4576 | 602368 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 144 | 4576 | 602368 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GRM1 CL E G H | 2911 | 324262 | | | | ORPHA | 1 | | 193 | 4593 | 604473 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GRM1 CL E G H | 2911 | 324262 | | | | ORPHA | 1 | | 186 | 4593 | 604473 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 193 | 4593 | 604473 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 186 | 4593 | 604473 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 50 | 4670 | 607434 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 34 | 4670 | 607434 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 545 | 4867 | 605109 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 506 | 4867 | 605109 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 639 | 5213 | 601860 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 560 | 5213 | 601860 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 393 | 4851 | 613004 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 145 | 4851 | 613004 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 50 | 5456 | 603502 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 51 | 5456 | 603502 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 969 | 6180 | 147265 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ITPR1 CL E G H | 3708 | 98769 | | | | ORPHA | 1 | | 969 | 6180 | 147265 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ITPR1 CL E G H | 3708 | 98769 | | | | ORPHA | 1 | | 895 | 6180 | 147265 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 895 | 6180 | 147265 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 969 | 6180 | 147265 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 895 | 6180 | 147265 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 126 | 6235 | 176264 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 166 | 6235 | 176264 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 166 | 6235 | 176264 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 126 | 6235 | 176264 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 266 | 6239 | 605411 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 233 | 6239 | 605411 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 335 | 6317 | 603060 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 286 | 6317 | 603060 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 335 | 6317 | 603060 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 286 | 6317 | 603060 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 388 | 6638 | 150341 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 314 | 6638 | 150341 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 790 | 6826 | 609458 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 653 | 6826 | 609458 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MARS2 CL E G H | 92935 | 314603 | | | | ORPHA | 1 | | 109 | 25133 | 609728 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MARS2 CL E G H | 92935 | 314603 | | | | ORPHA | 1 | | 95 | 25133 | 609728 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 109 | 25133 | 609728 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 95 | 25133 | 609728 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1684 | 6990 | 300005 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1603 | 6990 | 300005 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 342 | 7154 | 120520 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 196 | 7154 | 120520 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 342 | 7154 | 120520 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 196 | 7154 | 120520 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 522 | 7225 | 159440 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 493 | 7225 | 159440 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1258 | 7230 | 600814 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1259 | 7230 | 600814 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1259 | 7230 | 600814 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1258 | 7230 | 600814 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 1 | | 44 | 15911 | 614154 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 1 | | 43 | 15911 | 614154 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 77 | 8066 | 605815 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 43 | 8066 | 605815 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | OPHN1 CL E G H | 4983 | 300486 | Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 300486 | C1845366 | OMIM | 1 | | 358 | 8148 | 300127 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | OPHN1 CL E G H | 4983 | 300486 | Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 300486 | C1845366 | OMIM | 1 | | 344 | 8148 | 300127 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 107 | 9279 | 605993 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 87 | 9279 | 605993 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 144 | 8820 | 131340 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 159 | 8820 | 131340 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 159 | 8820 | 131340 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 144 | 8820 | 131340 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PEX6 CL E G H | 5190 | 95433 | | | | ORPHA | 1 | | 855 | 8859 | 601498 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PEX6 CL E G H | 5190 | 95433 | | | | ORPHA | 1 | | 645 | 8859 | 601498 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 513 | 9039 | 603604 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 431 | 9039 | 603604 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 20 | 17158 | 615698 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 19 | 17158 | 615698 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 390 | 9118 | 601097 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 419 | 9118 | 601097 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 128 | 18667 | 613036 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 134 | 18667 | 613036 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 104 | 9171 | 602632 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 88 | 9171 | 602632 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1712 | 9179 | 174763 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1470 | 9179 | 174763 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 37 | 14951 | 613257 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 35 | 14951 | 613257 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 1 | | 261 | 9402 | 176980 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 1 | | 271 | 9402 | 176980 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 271 | 9402 | 176980 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 261 | 9402 | 176980 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 502 | 9498 | 176801 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 390 | 9498 | 176801 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 33 | 9761 | 604198 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 56 | 9761 | 604198 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 12 | 19380 | 0 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 272 | 17296 | 604712 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 261 | 17296 | 604712 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 118 | 28991 | 613516 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 114 | 28991 | 613516 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 376 | 1665 | 602257 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 328 | 1665 | 602257 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 69 | 14372 | 607982 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 68 | 14372 | 607982 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SCYL1 CL E G H | 57410 | 616719 | Spinocerebellar ataxia, autosomal recessive 21 | 616719 | C4225236 | OMIM | 1 | | 69 | 14372 | 607982 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SCYL1 CL E G H | 57410 | 616719 | Spinocerebellar ataxia, autosomal recessive 21 | 616719 | C4225236 | OMIM | 1 | | 68 | 14372 | 607982 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SIL1 CL E G H | 64374 | 248800 | Marinesco-Sjögren syndrome | 248800 | C0024814 | OMIM | 1 | | 217 | 24624 | 608005 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SIL1 CL E G H | 64374 | 248800 | Marinesco-Sjögren syndrome | 248800 | C0024814 | OMIM | 1 | | 206 | 24624 | 608005 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 80 | 10935 | 193001 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SLC18A2 CL E G H | 6571 | 618049 | PARKINSONISM-DYSTONIA, INFANTILE, 2 | 618049 | CN248785 | OMIM | 1 | | 103 | 10935 | 193001 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 461 | 16266 | 606152 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 400 | 16266 | 606152 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SLC52A2 CL E G H | 79581 | 95433 | | | | ORPHA | 1 | | 391 | 30224 | 607882 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SLC52A2 CL E G H | 79581 | 95433 | | | | ORPHA | 1 | | 328 | 30224 | 607882 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 61 | 11071 | 107310 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SLC9A1 CL E G H | 6548 | 616291 | Lichtenstein-knorr syndrome | 616291 | C4225383 | OMIM | 1 | | 56 | 11071 | 107310 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SLC9A6 CL E G H | 10479 | 85278 | | | | ORPHA | 1 | | 487 | 11079 | 300231 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SLC9A6 CL E G H | 10479 | 85278 | | | | ORPHA | 1 | | 447 | 11079 | 300231 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 726 | 11237 | 602783 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SPG7 CL E G H | 6687 | 607259 | Spastic paraplegia 7 | 607259 | C1846564 | OMIM | 1 | | 648 | 11237 | 602783 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 569 | 11276 | 604985 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SPTBN2 CL E G H | 6712 | 600224 | Spinocerebellar ataxia 5 | 600224 | C0752123 | OMIM | 1 | | 478 | 11276 | 604985 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SPTBN2 CL E G H | 6712 | 615386 | Spinocerebellar ataxia, autosomal recessive 14 | 615386 | C3809327 | OMIM | 1 | | 569 | 11276 | 604985 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SPTBN2 CL E G H | 6712 | 615386 | Spinocerebellar ataxia, autosomal recessive 14 | 615386 | C3809327 | OMIM | 1 | | 478 | 11276 | 604985 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 473 | 11280 | 601530 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SQSTM1 CL E G H | 8878 | 617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | 617145 | C4310693 | OMIM | 1 | | 383 | 11280 | 601530 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | STUB1 CL E G H | 10273 | 618093 | SPINOCEREBELLAR ATAXIA 48 | 618093 | | OMIM | 1 | | 138 | 11427 | 607207 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | STUB1 CL E G H | 10273 | 618093 | SPINOCEREBELLAR ATAXIA 48 | 618093 | | OMIM | 1 | | 144 | 11427 | 607207 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 4170 | 17089 | 608441 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SYNE1 CL E G H | 23345 | 610743 | Spinocerebellar ataxia, autosomal recessive 8 | 610743 | C1853116 | OMIM | 1 | | 3641 | 17089 | 608441 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 909 | 11503 | 604297 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 730 | 11503 | 604297 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 550 | 25439 | 616830 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TANGO2 CL E G H | 128989 | 616878 | TANGO2-Related Metabolic Encephalopathy and Arrhythmias | 616878 | C4225171 | OMIM | 1 | | 480 | 25439 | 616830 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 106 | 11588 | 600075 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TBP CL E G H | 6908 | 607136 | Spinocerebellar ataxia 17 | 607136 | C1846707 | OMIM | 1 | | 102 | 11588 | 600075 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TCF4 CL E G H | 6925 | 2896 | Hypogonadism retinitis pigmentosa | | | ORPHA | 1 | | 812 | 11634 | 602272 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TCF4 CL E G H | 6925 | 2896 | Hypogonadism retinitis pigmentosa | | | ORPHA | 1 | | 756 | 11634 | 602272 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 812 | 11634 | 602272 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 756 | 11634 | 602272 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TECPR2 CL E G H | 9895 | 320385 | | | | ORPHA | 1 | | 746 | 19957 | 615000 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TECPR2 CL E G H | 9895 | 320385 | | | | ORPHA | 1 | | 680 | 19957 | 615000 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TECPR2 CL E G H | 9895 | 615031 | Spastic paraplegia 49, autosomal recessive | 615031 | C3542549 | OMIM | 1 | | 746 | 19957 | 615000 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TECPR2 CL E G H | 9895 | 615031 | Spastic paraplegia 49, autosomal recessive | 615031 | C3542549 | OMIM | 1 | | 680 | 19957 | 615000 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TGM6 CL E G H | 343641 | 276193 | | | | ORPHA | 1 | | 275 | 16255 | 613900 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TGM6 CL E G H | 343641 | 276193 | | | | ORPHA | 1 | | 270 | 16255 | 613900 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 550 | 11782 | 191290 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TH CL E G H | 7054 | 101150 | | | | ORPHA | 1 | | 655 | 11782 | 191290 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 655 | 11782 | 191290 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TH CL E G H | 7054 | 605407 | Segawa syndrome, autosomal recessive | 605407 | C1854299 | OMIM | 1 | | 550 | 11782 | 191290 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 62 | 22407 | 613413 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TMEM106B CL E G H | 54664 | 617964 | LEUKODYSTROPHY, HYPOMYELINATING, 16 | 617964 | CN244907 | OMIM | 1 | | 74 | 22407 | 613413 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 186 | 25186 | 616101 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TMEM240 CL E G H | 339453 | 98773 | | | | ORPHA | 1 | | 176 | 25186 | 616101 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 186 | 25186 | 616101 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TMEM240 CL E G H | 339453 | 607454 | Spinocerebellar ataxia 21 | 607454 | C1843891 | OMIM | 1 | | 176 | 25186 | 616101 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 745 | 2073 | 607998 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TPP1 CL E G H | 1200 | 609270 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | 609270 | C1836474 | OMIM | 1 | | 645 | 2073 | 607998 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TRPC3 CL E G H | 7222 | 458798 | | | | ORPHA | 1 | | 39 | 12335 | 602345 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TRPC3 CL E G H | 7222 | 458798 | | | | ORPHA | 1 | | 36 | 12335 | 602345 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TUBB4A CL E G H | 10382 | 128101 | Autosomal dominant torsion dystonia 4 | 128101 | C1851943 | OMIM | 1 | | 181 | 20774 | 602662 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TUBB4A CL E G H | 10382 | 128101 | Autosomal dominant torsion dystonia 4 | 128101 | C1851943 | OMIM | 1 | | 168 | 20774 | 602662 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 270 | 1160 | 606075 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | TWNK CL E G H | 56652 | 70595 | | | | ORPHA | 1 | | 234 | 1160 | 606075 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | UBA5 CL E G H | 79876 | 617133 | Spinocerebellar ataxia, autosomal recessive 24 | 617133 | C4310699 | OMIM | 1 | | 109 | 23230 | 610552 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | UBA5 CL E G H | 79876 | 617133 | Spinocerebellar ataxia, autosomal recessive 24 | 617133 | C4310699 | OMIM | 1 | | 58 | 23230 | 610552 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 73 | 26444 | 613012 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | UROC1 CL E G H | 131669 | 210128 | | | | ORPHA | 1 | | 74 | 26444 | 613012 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | VLDLR CL E G H | 7436 | 224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | 224050 | CN074243 | OMIM | 1 | | 461 | 12698 | 192977 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | VLDLR CL E G H | 7436 | 224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | 224050 | CN074243 | OMIM | 1 | | 477 | 12698 | 192977 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 266 | 23595 | 608877 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | VPS13D CL E G H | 55187 | 607317 | Spinocerebellar ataxia autosomal recessive 4 | 607317 | C1846492 | OMIM | 1 | | 191 | 23595 | 608877 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | WWOX CL E G H | 51741 | 284282 | | | | ORPHA | 1 | | 879 | 12799 | 605131 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | WWOX CL E G H | 51741 | 284282 | | | | ORPHA | 1 | | 767 | 12799 | 605131 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | WWOX CL E G H | 51741 | 614322 | Spinocerebellar ataxia, autosomal recessive 12 | 614322 | C3280452 | OMIM | 1 | | 879 | 12799 | 605131 |
HP:0002066 | HP:0002066 | Gait ataxia | 0 | WWOX CL E G H | 51741 | 614322 | Spinocerebellar ataxia, autosomal recessive 12 | 614322 | C3280452 | OMIM | 1 | | 767 | 12799 | 605131 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0002066 | HP:0012651 | Abasia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 654 | 225 | 146920 |
HP:0002066 | HP:0012651 | Abasia | 1 | ADAR CL E G H | 103 | 225154 | | | | ORPHA | 1 | | 471 | 225 | 146920 |
HP:0002066 | HP:0012651 | Abasia | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0002066 | HP:0012651 | Abasia | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0002066 | HP:0012651 | Abasia | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0002066 | HP:0012651 | Abasia | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 349 | 315 | 604581 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | AFG3L2 CL E G H | 10939 | 101109 | | | | ORPHA | 1 | | 357 | 315 | 604581 |
HP:0002066 | HP:0012651 | Abasia | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0002066 | HP:0012651 | Abasia | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 357 | 315 | 604581 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | AFG3L2 CL E G H | 10939 | 610246 | Spinocerebellar ataxia 28 | 610246 | C1853249 | OMIM | 1 | | 349 | 315 | 604581 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 222 | 25519 | 613726 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 214 | 25519 | 613726 |
HP:0002066 | HP:0012651 | Abasia | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 222 | 25519 | 613726 |
HP:0002066 | HP:0012651 | Abasia | 1 | ANO10 CL E G H | 55129 | 613728 | Spinocerebellar ataxia, autosomal recessive 10 | 613728 | C3150998 | OMIM | 1 | | 214 | 25519 | 613726 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 219 | 560 | 300629 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 216 | 560 | 300629 |
HP:0002066 | HP:0012651 | Abasia | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 219 | 560 | 300629 |
HP:0002066 | HP:0012651 | Abasia | 1 | AP1S2 CL E G H | 8905 | 304340 | Pettigrew syndrome | 304340 | C0796254 | OMIM | 1 | | 216 | 560 | 300629 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 236 | 15984 | 606350 |
HP:0002066 | HP:0012651 | Abasia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 258 | 15984 | 606350 |
HP:0002066 | HP:0012651 | Abasia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 236 | 15984 | 606350 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | APTX CL E G H | 54840 | 208920 | Ataxia-oculomotor apraxia type 1 | 208920 | C1859598 | OMIM | 1 | | 258 | 15984 | 606350 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0002066 | HP:0012651 | Abasia | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 95 | 649 | 600820 |
HP:0002066 | HP:0012651 | Abasia | 1 | ARCN1 CL E G H | 372 | 617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | 617164 | C4310686 | OMIM | 1 | | 69 | 649 | 600820 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 179 | 779 | 608179 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 175 | 779 | 608179 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 179 | 779 | 608179 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATCAY CL E G H | 85300 | 94122 | | | | ORPHA | 1 | | 175 | 779 | 608179 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 179 | 779 | 608179 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 175 | 779 | 608179 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 179 | 779 | 608179 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 175 | 779 | 608179 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 103 | 3033 | 607462 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 96 | 3033 | 607462 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 103 | 3033 | 607462 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATN1 CL E G H | 1822 | 101 | | | | ORPHA | 1 | | 96 | 3033 | 607462 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 687 | 801 | 182350 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 625 | 801 | 182350 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 687 | 801 | 182350 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATP1A3 CL E G H | 478 | 71517 | | | | ORPHA | 1 | | 625 | 801 | 182350 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 687 | 801 | 182350 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 625 | 801 | 182350 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 687 | 801 | 182350 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATP1A3 CL E G H | 478 | 601338 | Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss | 601338 | C1832466 | OMIM | 1 | | 625 | 801 | 182350 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 99 | 10549 | 611150 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 101 | 10549 | 611150 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 99 | 10549 | 611150 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATXN10 CL E G H | 25814 | 98761 | | | | ORPHA | 1 | | 101 | 10549 | 611150 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 101 | 10549 | 611150 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 99 | 10549 | 611150 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 101 | 10549 | 611150 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATXN10 CL E G H | 25814 | 603516 | Spinocerebellar ataxia 10 | 603516 | C1963674 | OMIM | 1 | | 99 | 10549 | 611150 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 52 | 10555 | 601517 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 50 | 10555 | 601517 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 52 | 10555 | 601517 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATXN2 CL E G H | 6311 | 98756 | | | | ORPHA | 1 | | 50 | 10555 | 601517 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATXN8 CL E G H | 724066 | 98760 | | | | ORPHA | 1 | | 2 | 32925 | 613289 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 72 | 10561 | 603680 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 76 | 10561 | 603680 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 72 | 10561 | 603680 |
HP:0002066 | HP:0012651 | Abasia | 1 | ATXN8OS CL E G H | 6315 | 98760 | | | | ORPHA | 1 | | 76 | 10561 | 603680 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 35 | 24160 | 612051 |
HP:0002066 | HP:0012651 | Abasia | 1 | BEAN1 CL E G H | 146227 | 217012 | | | | ORPHA | 1 | | 35 | 24160 | 612051 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | BEAN1 CL E G H | 146227 | 117210 | Spinocerebellar ataxia 31 | 117210 | C1861736 | OMIM | 1 | | 35 | 24160 | 612051 |
HP:0002066 | HP:0012651 | Abasia | 1 | BEAN1 CL E G H | 146227 | 117210 | Spinocerebellar ataxia 31 | 117210 | C1861736 | OMIM | 1 | | 35 | 24160 | 612051 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 725 | 21701 | 614506 |
HP:0002066 | HP:0012651 | Abasia | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 847 | 21701 | 614506 |
HP:0002066 | HP:0012651 | Abasia | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 725 | 21701 | 614506 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | BRAT1 CL E G H | 221927 | 618056 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES | 618056 | CN252657 | OMIM | 1 | | 847 | 21701 | 614506 |
HP:0002066 | HP:0012651 | Abasia | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2326 | 1388 | 601011 |
HP:0002066 | HP:0012651 | Abasia | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2047 | 1388 | 601011 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2326 | 1388 | 601011 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CACNA1A CL E G H | 773 | 98758 | | | | ORPHA | 1 | | 2047 | 1388 | 601011 |
HP:0002066 | HP:0012651 | Abasia | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 357 | 1394 | 604065 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 374 | 1394 | 604065 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 357 | 1394 | 604065 |
HP:0002066 | HP:0012651 | Abasia | 1 | CACNA1G CL E G H | 8913 | 458803 | | | | ORPHA | 1 | | 374 | 1394 | 604065 |
HP:0002066 | HP:0012651 | Abasia | 1 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 84 | 1476 | 114220 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 100 | 1476 | 114220 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 84 | 1476 | 114220 |
HP:0002066 | HP:0012651 | Abasia | 1 | CAPN1 CL E G H | 823 | 488594 | | | | ORPHA | 1 | | 100 | 1476 | 114220 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 85 | 1527 | 601047 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 81 | 1527 | 601047 |
HP:0002066 | HP:0012651 | Abasia | 1 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 85 | 1527 | 601047 |
HP:0002066 | HP:0012651 | Abasia | 1 | CAV1 CL E G H | 857 | 606721 | Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome | 606721 | C1847582 | OMIM | 1 | | 81 | 1527 | 601047 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 265 | 19967 | 611204 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 258 | 19967 | 611204 |
HP:0002066 | HP:0012651 | Abasia | 1 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 265 | 19967 | 611204 |
HP:0002066 | HP:0012651 | Abasia | 1 | CCDC88C CL E G H | 440193 | 423275 | | | | ORPHA | 1 | | 258 | 19967 | 611204 |
HP:0002066 | HP:0012651 | Abasia | 1 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 202 | 20311 | 616327 |
HP:0002066 | HP:0012651 | Abasia | 1 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 191 | 20311 | 616327 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 202 | 20311 | 616327 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CHAMP1 CL E G H | 283489 | 616579 | Mental retardation, autosomal dominant 40 | 616579 | C4225275 | OMIM | 1 | | 191 | 20311 | 616327 |
HP:0002066 | HP:0012651 | Abasia | 1 | CLCN2 CL E G H | 1181 | 615651 | Leukoencephalopathy with ataxia | 615651 | C3810242 | OMIM | 1 | | 194 | 2020 | 600570 |
HP:0002066 | HP:0012651 | Abasia | 1 | CLCN2 CL E G H | 1181 | 615651 | Leukoencephalopathy with ataxia | 615651 | C3810242 | OMIM | 1 | | 163 | 2020 | 600570 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CLCN2 CL E G H | 1181 | 615651 | Leukoencephalopathy with ataxia | 615651 | C3810242 | OMIM | 1 | | 194 | 2020 | 600570 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CLCN2 CL E G H | 1181 | 615651 | Leukoencephalopathy with ataxia | 615651 | C3810242 | OMIM | 1 | | 163 | 2020 | 600570 |
HP:0002066 | HP:0012651 | Abasia | 1 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 137 | 25223 | 609825 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 171 | 25223 | 609825 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 137 | 25223 | 609825 |
HP:0002066 | HP:0012651 | Abasia | 1 | COQ2 CL E G H | 27235 | 227510 | | | | ORPHA | 1 | | 171 | 25223 | 609825 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0002066 | HP:0012651 | Abasia | 1 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0002066 | HP:0012651 | Abasia | 1 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 59 | 25613 | 616120 |
HP:0002066 | HP:0012651 | Abasia | 1 | CWF19L1 CL E G H | 55280 | 453521 | | | | ORPHA | 1 | | 59 | 25613 | 616120 |
HP:0002066 | HP:0012651 | Abasia | 1 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | DKK1 CL E G H | 22943 | 268882 | | | | ORPHA | 1 | | 24 | 2891 | 605189 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 90 | 9439 | 601184 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 86 | 9439 | 601184 |
HP:0002066 | HP:0012651 | Abasia | 1 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 90 | 9439 | 601184 |
HP:0002066 | HP:0012651 | Abasia | 1 | DNAJC3 CL E G H | 5611 | 445062 | | | | ORPHA | 1 | | 86 | 9439 | 601184 |
HP:0002066 | HP:0012651 | Abasia | 1 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 90 | 9439 | 601184 |
HP:0002066 | HP:0012651 | Abasia | 1 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 86 | 9439 | 601184 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 90 | 9439 | 601184 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | DNAJC3 CL E G H | 5611 | 616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | 616192 | C4015436 | OMIM | 1 | | 86 | 9439 | 601184 |
HP:0002066 | HP:0012651 | Abasia | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 215 | 15469 | 608375 |
HP:0002066 | HP:0012651 | Abasia | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 173 | 15469 | 608375 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 215 | 15469 | 608375 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 173 | 15469 | 608375 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | DOCK3 CL E G H | 1795 | 618292 | 618292 | 618292 | | OMIM | 1 | | 43 | 2989 | 603123 |
HP:0002066 | HP:0012651 | Abasia | 1 | DOCK3 CL E G H | 1795 | 618292 | 618292 | 618292 | | OMIM | 1 | | 46 | 2989 | 603123 |
HP:0002066 | HP:0012651 | Abasia | 1 | DOCK3 CL E G H | 1795 | 618292 | 618292 | 618292 | | OMIM | 1 | | 43 | 2989 | 603123 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | DOCK3 CL E G H | 1795 | 618292 | 618292 | 618292 | | OMIM | 1 | | 46 | 2989 | 603123 |
HP:0002066 | HP:0012651 | Abasia | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 174 | 3214 | 130610 |
HP:0002066 | HP:0012651 | Abasia | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 170 | 3214 | 130610 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 174 | 3214 | 130610 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | EEF2 CL E G H | 1938 | 609306 | Spinocerebellar ataxia 26 | 609306 | C1836395 | OMIM | 1 | | 170 | 3214 | 130610 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 196 | 3267 | 300161 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0002066 | HP:0012651 | Abasia | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 196 | 3267 | 300161 |
HP:0002066 | HP:0012651 | Abasia | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 178 | 14415 | 605512 |
HP:0002066 | HP:0012651 | Abasia | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 213 | 14415 | 605512 |
HP:0002066 | HP:0012651 | Abasia | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 178 | 14415 | 605512 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ELOVL4 CL E G H | 6785 | 133190 | Erythrokeratodermia with ataxia | 133190 | C1851481 | OMIM | 1 | | 213 | 14415 | 605512 |
HP:0002066 | HP:0012651 | Abasia | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 1 | | 52 | 21308 | 611805 |
HP:0002066 | HP:0012651 | Abasia | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 1 | | 49 | 21308 | 611805 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 1 | | 52 | 21308 | 611805 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ELOVL5 CL E G H | 60481 | 423296 | | | | ORPHA | 1 | | 49 | 21308 | 611805 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 52 | 21308 | 611805 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 49 | 21308 | 611805 |
HP:0002066 | HP:0012651 | Abasia | 1 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 52 | 21308 | 611805 |
HP:0002066 | HP:0012651 | Abasia | 1 | ELOVL5 CL E G H | 60481 | 615957 | Spinocerebellar ataxia 38 | 615957 | C4014812 | OMIM | 1 | | 49 | 21308 | 611805 |
HP:0002066 | HP:0012651 | Abasia | 1 | ERMARD CL E G H | 55780 | 75857 | | | | ORPHA | 1 | | 220 | 21056 | 615532 |
HP:0002066 | HP:0012651 | Abasia | 1 | ERMARD CL E G H | 55780 | 75857 | | | | ORPHA | 1 | | 191 | 21056 | 615532 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ERMARD CL E G H | 55780 | 75857 | | | | ORPHA | 1 | | 220 | 21056 | 615532 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ERMARD CL E G H | 55780 | 75857 | | | | ORPHA | 1 | | 191 | 21056 | 615532 |
HP:0002066 | HP:0012651 | Abasia | 1 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 169 | 3596 | 604269 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 174 | 3596 | 604269 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 169 | 3596 | 604269 |
HP:0002066 | HP:0012651 | Abasia | 1 | FAT2 CL E G H | 2196 | 617769 | SPINOCEREBELLAR ATAXIA 45 | 617769 | C4540400 | OMIM | 1 | | 174 | 3596 | 604269 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 187 | 3671 | 601515 |
HP:0002066 | HP:0012651 | Abasia | 1 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 190 | 3671 | 601515 |
HP:0002066 | HP:0012651 | Abasia | 1 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 187 | 3671 | 601515 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FGF14 CL E G H | 2259 | 98764 | | | | ORPHA | 1 | | 190 | 3671 | 601515 |
HP:0002066 | HP:0012651 | Abasia | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 391 | 24682 | 609144 |
HP:0002066 | HP:0012651 | Abasia | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 326 | 24682 | 609144 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 391 | 24682 | 609144 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 326 | 24682 | 609144 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 322 | 3775 | 309550 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 317 | 3775 | 309550 |
HP:0002066 | HP:0012651 | Abasia | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 322 | 3775 | 309550 |
HP:0002066 | HP:0012651 | Abasia | 1 | FMR1 CL E G H | 2332 | 93256 | | | | ORPHA | 1 | | 317 | 3775 | 309550 |
HP:0002066 | HP:0012651 | Abasia | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 322 | 3775 | 309550 |
HP:0002066 | HP:0012651 | Abasia | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 317 | 3775 | 309550 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 322 | 3775 | 309550 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FMR1 CL E G H | 2332 | 300623 | Fragile X tremor/ataxia syndrome | 300623 | C1839780 | OMIM | 1 | | 317 | 3775 | 309550 |
HP:0002066 | HP:0012651 | Abasia | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 131 | 3951 | 606829 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FXN CL E G H | 2395 | 95 | | | | ORPHA | 1 | | 131 | 3951 | 606829 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 131 | 3951 | 606829 |
HP:0002066 | HP:0012651 | Abasia | 1 | FXN CL E G H | 2395 | 229300 | Friedreich ataxia 1 | 229300 | C1856689 | OMIM | 1 | | 131 | 3951 | 606829 |
HP:0002066 | HP:0012651 | Abasia | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 262 | 18986 | 609471 |
HP:0002066 | HP:0012651 | Abasia | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 246 | 18986 | 609471 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 262 | 18986 | 609471 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GBA2 CL E G H | 57704 | 352641 | | | | ORPHA | 1 | | 246 | 18986 | 609471 |
HP:0002066 | HP:0012651 | Abasia | 1 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 257 | 4193 | 600225 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 315 | 4193 | 600225 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 257 | 4193 | 600225 |
HP:0002066 | HP:0012651 | Abasia | 1 | GCH1 CL E G H | 2643 | 98808 | | | | ORPHA | 1 | | 315 | 4193 | 600225 |
HP:0002066 | HP:0012651 | Abasia | 1 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0002066 | HP:0012651 | Abasia | 1 | GCH1 CL E G H | 2643 | 128230 | Dystonia 5, Dopa-responsive type | 128230 | C1851920 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 95 | 4446 | 603048 |
HP:0002066 | HP:0012651 | Abasia | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 227 | 4446 | 603048 |
HP:0002066 | HP:0012651 | Abasia | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 95 | 4446 | 603048 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 227 | 4446 | 603048 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 151 | 4576 | 602368 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 144 | 4576 | 602368 |
HP:0002066 | HP:0012651 | Abasia | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 151 | 4576 | 602368 |
HP:0002066 | HP:0012651 | Abasia | 1 | GRID2 CL E G H | 2895 | 616204 | Spinocerebellar ataxia, autosomal recessive 18 | 616204 | C4015505 | OMIM | 1 | | 144 | 4576 | 602368 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GRM1 CL E G H | 2911 | 324262 | | | | ORPHA | 1 | | 193 | 4593 | 604473 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GRM1 CL E G H | 2911 | 324262 | | | | ORPHA | 1 | | 186 | 4593 | 604473 |
HP:0002066 | HP:0012651 | Abasia | 1 | GRM1 CL E G H | 2911 | 324262 | | | | ORPHA | 1 | | 193 | 4593 | 604473 |
HP:0002066 | HP:0012651 | Abasia | 1 | GRM1 CL E G H | 2911 | 324262 | | | | ORPHA | 1 | | 186 | 4593 | 604473 |
HP:0002066 | HP:0012651 | Abasia | 1 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 193 | 4593 | 604473 |
HP:0002066 | HP:0012651 | Abasia | 1 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 186 | 4593 | 604473 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 193 | 4593 | 604473 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GRM1 CL E G H | 2911 | 617691 | SPINOCEREBELLAR ATAXIA 44 | 617691 | C4521563 | OMIM | 1 | | 186 | 4593 | 604473 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 34 | 4670 | 607434 |
HP:0002066 | HP:0012651 | Abasia | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 50 | 4670 | 607434 |
HP:0002066 | HP:0012651 | Abasia | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 34 | 4670 | 607434 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 50 | 4670 | 607434 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 545 | 4867 | 605109 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 506 | 4867 | 605109 |
HP:0002066 | HP:0012651 | Abasia | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 545 | 4867 | 605109 |
HP:0002066 | HP:0012651 | Abasia | 1 | HERC1 CL E G H | 8925 | 617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | 617011 | C4310766 | OMIM | 1 | | 506 | 4867 | 605109 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 639 | 5213 | 601860 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 560 | 5213 | 601860 |
HP:0002066 | HP:0012651 | Abasia | 1 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 639 | 5213 | 601860 |
HP:0002066 | HP:0012651 | Abasia | 1 | HSD17B4 CL E G H | 3295 | 233400 | Perrault syndrome 1 | 233400 | | OMIM | 1 | | 560 | 5213 | 601860 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 145 | 4851 | 613004 |
HP:0002066 | HP:0012651 | Abasia | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 393 | 4851 | 613004 |
HP:0002066 | HP:0012651 | Abasia | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 145 | 4851 | 613004 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | HTT CL E G H | 3064 | 248111 | | | | ORPHA | 1 | | 393 | 4851 | 613004 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0002066 | HP:0012651 | Abasia | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0002066 | HP:0012651 | Abasia | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0002066 | HP:0012651 | Abasia | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 50 | 5456 | 603502 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 51 | 5456 | 603502 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 50 | 5456 | 603502 |
HP:0002066 | HP:0012651 | Abasia | 1 | IFRD1 CL E G H | 3475 | 98771 | | | | ORPHA | 1 | | 51 | 5456 | 603502 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ITPR1 CL E G H | 3708 | 98769 | | | | ORPHA | 1 | | 895 | 6180 | 147265 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 895 | 6180 | 147265 |
HP:0002066 | HP:0012651 | Abasia | 1 | ITPR1 CL E G H | 3708 | 98769 | | | | ORPHA | 1 | | 969 | 6180 | 147265 |
HP:0002066 | HP:0012651 | Abasia | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 969 | 6180 | 147265 |
HP:0002066 | HP:0012651 | Abasia | 1 | ITPR1 CL E G H | 3708 | 98769 | | | | ORPHA | 1 | | 895 | 6180 | 147265 |
HP:0002066 | HP:0012651 | Abasia | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 895 | 6180 | 147265 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ITPR1 CL E G H | 3708 | 98769 | | | | ORPHA | 1 | | 969 | 6180 | 147265 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ITPR1 CL E G H | 3708 | 208513 | | | | ORPHA | 1 | | 969 | 6180 | 147265 |
HP:0002066 | HP:0012651 | Abasia | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 969 | 6180 | 147265 |
HP:0002066 | HP:0012651 | Abasia | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 895 | 6180 | 147265 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 969 | 6180 | 147265 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | ITPR1 CL E G H | 3708 | 606658 | Spinocerebellar ataxia 15 | 606658 | C1847725 | OMIM | 1 | | 895 | 6180 | 147265 |
HP:0002066 | HP:0012651 | Abasia | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 126 | 6235 | 176264 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 166 | 6235 | 176264 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 126 | 6235 | 176264 |
HP:0002066 | HP:0012651 | Abasia | 1 | KCNC3 CL E G H | 3748 | 98768 | | | | ORPHA | 1 | | 166 | 6235 | 176264 |
HP:0002066 | HP:0012651 | Abasia | 1 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 166 | 6235 | 176264 |
HP:0002066 | HP:0012651 | Abasia | 1 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 126 | 6235 | 176264 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 166 | 6235 | 176264 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 126 | 6235 | 176264 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 266 | 6239 | 605411 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 233 | 6239 | 605411 |
HP:0002066 | HP:0012651 | Abasia | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 266 | 6239 | 605411 |
HP:0002066 | HP:0012651 | Abasia | 1 | KCND3 CL E G H | 3752 | 607346 | Spinocerebellar ataxia 19 | 607346 | C1846367 | OMIM | 1 | | 233 | 6239 | 605411 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 335 | 6317 | 603060 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 286 | 6317 | 603060 |
HP:0002066 | HP:0012651 | Abasia | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 335 | 6317 | 603060 |
HP:0002066 | HP:0012651 | Abasia | 1 | KIF1C CL E G H | 10749 | 397946 | | | | ORPHA | 1 | | 286 | 6317 | 603060 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 335 | 6317 | 603060 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 286 | 6317 | 603060 |
HP:0002066 | HP:0012651 | Abasia | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 335 | 6317 | 603060 |
HP:0002066 | HP:0012651 | Abasia | 1 | KIF1C CL E G H | 10749 | 611302 | Ataxia, spastic, 2, autosomal recessive | 611302 | C1969796 | OMIM | 1 | | 286 | 6317 | 603060 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 388 | 6638 | 150341 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 314 | 6638 | 150341 |
HP:0002066 | HP:0012651 | Abasia | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 388 | 6638 | 150341 |
HP:0002066 | HP:0012651 | Abasia | 1 | LMNB2 CL E G H | 84823 | 616540 | Epilepsy, progressive myoclonic, 9 | 616540 | C4225289 | OMIM | 1 | | 314 | 6638 | 150341 |
HP:0002066 | HP:0012651 | Abasia | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 790 | 6826 | 609458 |
HP:0002066 | HP:0012651 | Abasia | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 653 | 6826 | 609458 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 790 | 6826 | 609458 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 653 | 6826 | 609458 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MARS2 CL E G H | 92935 | 314603 | | | | ORPHA | 1 | | 109 | 25133 | 609728 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MARS2 CL E G H | 92935 | 314603 | | | | ORPHA | 1 | | 95 | 25133 | 609728 |
HP:0002066 | HP:0012651 | Abasia | 1 | MARS2 CL E G H | 92935 | 314603 | | | | ORPHA | 1 | | 109 | 25133 | 609728 |
HP:0002066 | HP:0012651 | Abasia | 1 | MARS2 CL E G H | 92935 | 314603 | | | | ORPHA | 1 | | 95 | 25133 | 609728 |
HP:0002066 | HP:0012651 | Abasia | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 109 | 25133 | 609728 |
HP:0002066 | HP:0012651 | Abasia | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 95 | 25133 | 609728 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 109 | 25133 | 609728 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MARS2 CL E G H | 92935 | 611390 | Ataxia, spastic, 3, autosomal recessive | 611390 | C1969645 | OMIM | 1 | | 95 | 25133 | 609728 |
HP:0002066 | HP:0012651 | Abasia | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1684 | 6990 | 300005 |
HP:0002066 | HP:0012651 | Abasia | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1603 | 6990 | 300005 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1684 | 6990 | 300005 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MECP2 CL E G H | 4204 | 312750 | Rett syndrome | 312750 | C0035372 | OMIM | 1 | | 1603 | 6990 | 300005 |
HP:0002066 | HP:0012651 | Abasia | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 342 | 7154 | 120520 |
HP:0002066 | HP:0012651 | Abasia | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 196 | 7154 | 120520 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 342 | 7154 | 120520 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MME CL E G H | 4311 | 497764 | | | | ORPHA | 1 | | 196 | 7154 | 120520 |
HP:0002066 | HP:0012651 | Abasia | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 342 | 7154 | 120520 |
HP:0002066 | HP:0012651 | Abasia | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 196 | 7154 | 120520 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 342 | 7154 | 120520 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MME CL E G H | 4311 | 617018 | Spinocerebellar ataxia 43 | 617018 | C4310763 | OMIM | 1 | | 196 | 7154 | 120520 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 493 | 7225 | 159440 |
HP:0002066 | HP:0012651 | Abasia | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 522 | 7225 | 159440 |
HP:0002066 | HP:0012651 | Abasia | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 493 | 7225 | 159440 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MPZ CL E G H | 4359 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 522 | 7225 | 159440 |
HP:0002066 | HP:0012651 | Abasia | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1258 | 7230 | 600814 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1259 | 7230 | 600814 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1258 | 7230 | 600814 |
HP:0002066 | HP:0012651 | Abasia | 1 | MRE11 CL E G H | 4361 | 251347 | | | | ORPHA | 1 | | 1259 | 7230 | 600814 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1259 | 7230 | 600814 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1258 | 7230 | 600814 |
HP:0002066 | HP:0012651 | Abasia | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1259 | 7230 | 600814 |
HP:0002066 | HP:0012651 | Abasia | 1 | MRE11 CL E G H | 4361 | 604391 | Ataxia-telangiectasia-like disorder 1 | 604391 | C1858391 | OMIM | 1 | | 1258 | 7230 | 600814 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0002066 | HP:0012651 | Abasia | 1 | MT-ATP6 CL E G H | 4508 | 225154 | | | | ORPHA | 1 | | | 7414 | 516060 |
HP:0002066 | HP:0012651 | Abasia | 1 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 1 | | 44 | 15911 | 614154 |
HP:0002066 | HP:0012651 | Abasia | 1 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 1 | | 43 | 15911 | 614154 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 1 | | 44 | 15911 | 614154 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | NOP56 CL E G H | 10528 | 614153 | Spinocerebellar ataxia 36 | 614153 | C3472711 | OMIM | 1 | | 43 | 15911 | 614154 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 43 | 8066 | 605815 |
HP:0002066 | HP:0012651 | Abasia | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 77 | 8066 | 605815 |
HP:0002066 | HP:0012651 | Abasia | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 43 | 8066 | 605815 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | NUP62 CL E G H | 23636 | 225154 | | | | ORPHA | 1 | | 77 | 8066 | 605815 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | OPHN1 CL E G H | 4983 | 300486 | Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 300486 | C1845366 | OMIM | 1 | | 358 | 8148 | 300127 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | OPHN1 CL E G H | 4983 | 300486 | Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 300486 | C1845366 | OMIM | 1 | | 344 | 8148 | 300127 |
HP:0002066 | HP:0012651 | Abasia | 1 | OPHN1 CL E G H | 4983 | 300486 | Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 300486 | C1845366 | OMIM | 1 | | 358 | 8148 | 300127 |
HP:0002066 | HP:0012651 | Abasia | 1 | OPHN1 CL E G H | 4983 | 300486 | Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 300486 | C1845366 | OMIM | 1 | | 344 | 8148 | 300127 |
HP:0002066 | HP:0012651 | Abasia | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 107 | 9279 | 605993 |
HP:0002066 | HP:0012651 | Abasia | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 87 | 9279 | 605993 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 107 | 9279 | 605993 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 87 | 9279 | 605993 |
HP:0002066 | HP:0012651 | Abasia | 1 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 144 | 8820 | 131340 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 159 | 8820 | 131340 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 144 | 8820 | 131340 |
HP:0002066 | HP:0012651 | Abasia | 1 | PDYN CL E G H | 5173 | 101108 | | | | ORPHA | 1 | | 159 | 8820 | 131340 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 159 | 8820 | 131340 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 144 | 8820 | 131340 |
HP:0002066 | HP:0012651 | Abasia | 1 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 159 | 8820 | 131340 |
HP:0002066 | HP:0012651 | Abasia | 1 | PDYN CL E G H | 5173 | 610245 | Spinocerebellar ataxia 23 | 610245 | C1853250 | OMIM | 1 | | 144 | 8820 | 131340 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PEX6 CL E G H | 5190 | 95433 | | | | ORPHA | 1 | | 855 | 8859 | 601498 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PEX6 CL E G H | 5190 | 95433 | | | | ORPHA | 1 | | 645 | 8859 | 601498 |
HP:0002066 | HP:0012651 | Abasia | 1 | PEX6 CL E G H | 5190 | 95433 | | | | ORPHA | 1 | | 855 | 8859 | 601498 |
HP:0002066 | HP:0012651 | Abasia | 1 | PEX6 CL E G H | 5190 | 95433 | | | | ORPHA | 1 | | 645 | 8859 | 601498 |
HP:0002066 | HP:0012651 | Abasia | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 513 | 9039 | 603604 |
HP:0002066 | HP:0012651 | Abasia | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 431 | 9039 | 603604 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 513 | 9039 | 603604 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PLA2G6 CL E G H | 8398 | 610217 | Neurodegeneration with brain iron accumulation 2b | 610217 | C1857747 | OMIM | 1 | | 431 | 9039 | 603604 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 19 | 17158 | 615698 |
HP:0002066 | HP:0012651 | Abasia | 1 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 20 | 17158 | 615698 |
HP:0002066 | HP:0012651 | Abasia | 1 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 19 | 17158 | 615698 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PLD3 CL E G H | 23646 | 617770 | SPINOCEREBELLAR ATAXIA 46 | 617770 | C4540404 | OMIM | 1 | | 20 | 17158 | 615698 |
HP:0002066 | HP:0012651 | Abasia | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 390 | 9118 | 601097 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 419 | 9118 | 601097 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 390 | 9118 | 601097 |
HP:0002066 | HP:0012651 | Abasia | 1 | PMP22 CL E G H | 5376 | 180800 | Roussy-Lévy syndrome | 180800 | C0205713 | OMIM | 1 | | 419 | 9118 | 601097 |
HP:0002066 | HP:0012651 | Abasia | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 128 | 18667 | 613036 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 134 | 18667 | 613036 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 128 | 18667 | 613036 |
HP:0002066 | HP:0012651 | Abasia | 1 | PMPCA CL E G H | 23203 | 213200 | Spinocerebellar ataxia, autosomal recessive 2 | 213200 | C1859298 | OMIM | 1 | | 134 | 18667 | 613036 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 104 | 9171 | 602632 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 88 | 9171 | 602632 |
HP:0002066 | HP:0012651 | Abasia | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 104 | 9171 | 602632 |
HP:0002066 | HP:0012651 | Abasia | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 88 | 9171 | 602632 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1712 | 9179 | 174763 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1470 | 9179 | 174763 |
HP:0002066 | HP:0012651 | Abasia | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1712 | 9179 | 174763 |
HP:0002066 | HP:0012651 | Abasia | 1 | POLG CL E G H | 5428 | 70595 | | | | ORPHA | 1 | | 1470 | 9179 | 174763 |
HP:0002066 | HP:0012651 | Abasia | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0002066 | HP:0012651 | Abasia | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0002066 | HP:0012651 | Abasia | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0002066 | HP:0012651 | Abasia | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0002066 | HP:0012651 | Abasia | 1 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 37 | 14951 | 613257 |
HP:0002066 | HP:0012651 | Abasia | 1 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 35 | 14951 | 613257 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 37 | 14951 | 613257 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PPP1R15B CL E G H | 84919 | 616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | 616817 | C4225195 | OMIM | 1 | | 35 | 14951 | 613257 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 1 | | 261 | 9402 | 176980 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 1 | | 271 | 9402 | 176980 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 1 | | 261 | 9402 | 176980 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRKCG CL E G H | 5582 | 98763 | | | | ORPHA | 1 | | 271 | 9402 | 176980 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 271 | 9402 | 176980 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 261 | 9402 | 176980 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 271 | 9402 | 176980 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRKCG CL E G H | 5582 | 605361 | Spinocerebellar ataxia 14 | 605361 | C1854369 | OMIM | 1 | | 261 | 9402 | 176980 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRNP CL E G H | 5621 | 282166 | | | | ORPHA | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRNP CL E G H | 5621 | 157941 | | | | ORPHA | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRNP CL E G H | 5621 | 137440 | Gerstmann-Straussler-Scheinker syndrome | 137440 | C0017495 | OMIM | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 131 | 9449 | 176640 |
HP:0002066 | HP:0012651 | Abasia | 1 | PRNP CL E G H | 5621 | 123400 | Jakob-Creutzfeldt disease | 123400 | C0022336 | OMIM | 1 | | 146 | 9449 | 176640 |
HP:0002066 | HP:0012651 | Abasia | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 502 | 9498 | 176801 |
HP:0002066 | HP:0012651 | Abasia | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 390 | 9498 | 176801 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 502 | 9498 | 176801 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 390 | 9498 | 176801 |
HP:0002066 | HP:0012651 | Abasia | 1 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 33 | 9761 | 604198 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 56 | 9761 | 604198 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 33 | 9761 | 604198 |
HP:0002066 | HP:0012651 | Abasia | 1 | RAB11B CL E G H | 9230 | 617807 | NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | 617807 | C4540498 | OMIM | 1 | | 56 | 9761 | 604198 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 12 | 19380 | 0 |
HP:0002066 | HP:0012651 | Abasia | 1 | RNU12 CL E G H | 267010 | 512260 | | | | ORPHA | 1 | | 12 | 19380 | 0 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 272 | 17296 | 604712 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 261 | 17296 | 604712 |
HP:0002066 | HP:0012651 | Abasia | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 272 | 17296 | 604712 |
HP:0002066 | HP:0012651 | Abasia | 1 | RRM2B CL E G H | 50484 | 612075 | Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy | 612075 | C2749861 | OMIM | 1 | | 261 | 17296 | 604712 |
HP:0002066 | HP:0012651 | Abasia | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 118 | 28991 | 613516 |
HP:0002066 | HP:0012651 | Abasia | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 114 | 28991 | 613516 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 118 | 28991 | 613516 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | RUBCN CL E G H | 9711 | 404499 | | | | ORPHA | 1 | | 114 | 28991 | 613516 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 376 | 1665 | 602257 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 328 | 1665 | 602257 |
HP:0002066 | HP:0012651 | Abasia | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 376 | 1665 | 602257 |
HP:0002066 | HP:0012651 | Abasia | 1 | SCARB2 CL E G H | 950 | 254900 | Epilepsy, progressive myoclonic 4, with or without renal failure | 254900 | C0751779 | OMIM | 1 | | 328 | 1665 | 602257 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 68 | 14372 | 607982 |
HP:0002066 | HP:0012651 | Abasia | 1 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 69 | 14372 | 607982 |
HP:0002066 | HP:0012651 | Abasia | 1 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 68 | 14372 | 607982 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 69 | 14372 | 607982 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | SCYL1 CL E G H | 57410 | 616719 | Spinocerebellar ataxia, autosomal recessive 21 | 616719 | C4225236 | OMIM | 1 | | 69 | 14372 | 607982 |
HP:0002066 | HP:0007240 | Progressive gait ataxia | 1 | SCYL1 |