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:0000496 | HP:0000496 | Abnormality of eye movement | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 229 | 21350 | 608769 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | PDHX CL E G H | 8050 | 245349 | Pyruvate dehydrogenase E3-binding protein deficiency | 245349 | C1855553 | OMIM | 1 | | 264 | 21350 | 608769 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 231 | 30260 | 603287 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | PNPO CL E G H | 55163 | 79096 | | | | ORPHA | 1 | | 262 | 30260 | 603287 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 36 | 9305 | 604325 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | PPP2R2B CL E G H | 5521 | 604326 | Spinocerebellar ataxia 12 | 604326 | C1858501 | OMIM | 1 | | 38 | 9305 | 604325 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 390 | 9498 | 176801 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 502 | 9498 | 176801 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | RS1 CL E G H | 6247 | 792 | | | | ORPHA | 1 | | 551 | 10457 | 300839 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | RS1 CL E G H | 6247 | 792 | | | | ORPHA | 1 | | 622 | 10457 | 300839 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 80 | 10935 | 193001 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | SLC18A2 CL E G H | 6571 | 352649 | | | | ORPHA | 1 | | 103 | 10935 | 193001 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 328 | 30224 | 607882 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 391 | 30224 | 607882 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 314 | 16187 | 613350 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 363 | 16187 | 613350 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | SNAP29 CL E G H | 9342 | 66631 | | | | ORPHA | 1 | | 570 | 11133 | 604202 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | SNAP29 CL E G H | 9342 | 66631 | | | | ORPHA | 1 | | 588 | 11133 | 604202 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | TCTN3 CL E G H | 26123 | 2753 | Hunter Macpherson syndrome | | | ORPHA | 1 | | 148 | 24519 | 613847 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | TCTN3 CL E G H | 26123 | 2753 | Hunter Macpherson syndrome | | | ORPHA | 1 | | 256 | 24519 | 613847 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | TCTN3 CL E G H | 26123 | 614815 | Joubert syndrome 18 | 614815 | C3553758 | OMIM | 1 | | 148 | 24519 | 613847 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | TCTN3 CL E G H | 26123 | 614815 | Joubert syndrome 18 | 614815 | C3553758 | OMIM | 1 | | 256 | 24519 | 613847 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 431 | 28912 | 300526 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | WDR45 CL E G H | 11152 | 329284 | | | | ORPHA | 1 | | 464 | 28912 | 300526 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 431 | 28912 | 300526 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | WDR45 CL E G H | 11152 | 300894 | Neurodegeneration with brain iron accumulation 5 | 300894 | C3550973 | OMIM | 1 | | 464 | 28912 | 300526 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 108 | 12309 | 604500 |
HP:0000496 | HP:0000496 | Abnormality of eye movement | 0 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 109 | 12309 | 604500 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 472 | 408 | 610045 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 537 | 408 | 610045 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 524 | 443 | 606352 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | ALS2 CL E G H | 57679 | 293168 | | | | ORPHA | 1 | | 644 | 443 | 606352 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 251 | 20730 | 617612 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | ARMC9 CL E G H | 80210 | 617622 | JOUBERT SYNDROME 30 | 617622 | C4539937 | OMIM | 1 | | 380 | 20730 | 617612 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 300 | 1404 | 601949 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | CACNB4 CL E G H | 785 | 307 | | | | ORPHA | 1 | | 305 | 1404 | 601949 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 163 | 2020 | 600570 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | CLCN2 CL E G H | 1181 | 307 | | | | ORPHA | 1 | | 194 | 2020 | 600570 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | EFHC1 CL E G H | 114327 | 307 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 424 | 16406 | 608815 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | EFHC1 CL E G H | 114327 | 1941 | | | | ORPHA | 1 | | 432 | 16406 | 608815 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 418 | 4075 | 137160 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | GABRA1 CL E G H | 2554 | 307 | | | | ORPHA | 1 | | 458 | 4075 | 137160 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 340 | 4084 | 137163 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | GABRD CL E G H | 2563 | 307 | | | | ORPHA | 1 | | 361 | 4084 | 137163 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 257 | 4193 | 600225 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | GCH1 CL E G H | 2643 | 233910 | GTP cyclohydrolase I deficiency | 233910 | C0268467 | OMIM | 1 | | 315 | 4193 | 600225 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 112 | 5099 | 142955 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | HOXA1 CL E G H | 3198 | 601536 | Athabaskan brainstem dysgenesis | 601536 | C1832215 | OMIM | 1 | | 113 | 5099 | 142955 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 145 | 4851 | 613004 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | HTT CL E G H | 3064 | 143100 | Huntington's chorea | 143100 | C0020179 | OMIM | 1 | | 393 | 4851 | 613004 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | ICK CL E G H | 22858 | 307 | | | | ORPHA | 1 | | | 21219 | 612325 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | JRK CL E G H | 8629 | 307 | | | | ORPHA | 1 | | 64 | 6199 | 603210 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 101 | 6267 | 600877 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | KCNJ6 CL E G H | 3763 | 435628 | | | | ORPHA | 1 | | 115 | 6267 | 600877 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 886 | 6297 | 602232 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | KCNQ3 CL E G H | 3786 | 307 | | | | ORPHA | 1 | | 977 | 6297 | 602232 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 338 | 19960 | 610178 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | KIAA0586 CL E G H | 9786 | 616490 | Joubert syndrome 23 | 616490 | C4084822 | OMIM | 1 | | 662 | 19960 | 610178 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 214 | 6901 | 600521 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | MASP1 CL E G H | 5648 | 257920 | Michels syndrome | 257920 | C0796059 | OMIM | 1 | | 220 | 6901 | 600521 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0000657 | Oculomotor apraxia | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0033851 | Oculomotor synkinesis | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0000597 | Ophthalmoparesis | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0033980 | Paroxysmal tonic upgaze | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 18 | 17194 | 609435 |
HP:0000496 | HP:0025518 | Visual gaze preference | 1 | NDUFA13 CL E G H | 51079 | 618249 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28 | 618249 | | OMIM | 1 | | 19 | 17194 | 609435 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0000549 | Abnormal conjugate eye movement | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0012547 | Abnormal involuntary eye movements | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0500073 | Abnormal ocular alignment | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0000570 | Abnormal saccadic eye movements | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0025404 | Abnormal visual fixation | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0011347 | Abnormality of ocular abduction | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0000617 | Abnormality of ocular smooth pursuit | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0031705 | Compensatory head posture | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0000542 | Impaired ocular adduction | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 530 | 8806 | 300502 |
HP:0000496 | HP:0007941 | Limited extraocular movements | 1 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 538 | 8806 | 300502 |
HP:0000496 | HP:0025186 | Marcus Gunn jaw winking synkinesis | 1 | PDHA1 |