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:0000572 | HP:0000572 | Visual loss | 0 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2128 | 34 | 601691 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2534 | 34 | 601691 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 966 | 61 | 300371 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1065 | 61 | 300371 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ADGRV1 CL E G H | 84059 | 231178 | | | | ORPHA | 1 | | 2459 | 17416 | 602851 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ADGRV1 CL E G H | 84059 | 231178 | | | | ORPHA | 1 | | 3168 | 17416 | 602851 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ARSG CL E G H | 22901 | 231183 | | | | ORPHA | 1 | | 174 | 24102 | 610008 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ARSG CL E G H | 22901 | 231183 | | | | ORPHA | 1 | | 250 | 24102 | 610008 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 245 | 756 | 608034 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 281 | 756 | 608034 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 37 | 10560 | 607640 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 39 | 10560 | 607640 |
HP:0000572 | HP:0000572 | Visual loss | 0 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0000572 | HP:0000572 | Visual loss | 0 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0000572 | HP:0000572 | Visual loss | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0000572 | HP:0000572 | Visual loss | 0 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0000572 | HP:0000572 | Visual loss | 0 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 366 | 1122 | 609019 |
HP:0000572 | HP:0000572 | Visual loss | 0 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 409 | 1122 | 609019 |
HP:0000572 | HP:0000572 | Visual loss | 0 | C1QTNF5 CL E G H | 114902 | 605670 | Late-onset retinal degeneration | 605670 | C1854065 | OMIM | 1 | | 413 | 14344 | 608752 |
HP:0000572 | HP:0000572 | Visual loss | 0 | C1QTNF5 CL E G H | 114902 | 605670 | Late-onset retinal degeneration | 605670 | C1854065 | OMIM | 1 | | 521 | 14344 | 608752 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 2612 | 13733 | 605516 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 3075 | 13733 | 605516 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP78 CL E G H | 84131 | 231183 | | | | ORPHA | 1 | | 285 | 25740 | 617110 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP78 CL E G H | 84131 | 231183 | | | | ORPHA | 1 | | 389 | 25740 | 617110 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 137 | 24579 | 605564 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 163 | 24579 | 605564 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 388 | 2025 | 602727 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 549 | 2025 | 602727 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLRN1 CL E G H | 7401 | 231183 | | | | ORPHA | 1 | | 242 | 12605 | 606397 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CLRN1 CL E G H | 7401 | 231183 | | | | ORPHA | 1 | | 272 | 12605 | 606397 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL4A1 CL E G H | 1282 | 180000 | Retinal arteries, tortuosity of | 180000 | C1867327 | OMIM | 1 | | 837 | 2202 | 120130 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL4A1 CL E G H | 1282 | 180000 | Retinal arteries, tortuosity of | 180000 | C1867327 | OMIM | 1 | | 1010 | 2202 | 120130 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 137 | 25223 | 609825 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 171 | 25223 | 609825 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 413 | 2529 | 116840 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 465 | 2529 | 116840 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 1 | | 65 | 18274 | 605666 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 1 | | 67 | 18274 | 605666 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ELMO2 CL E G H | 63916 | 606893 | Vascular malformation, primary intraosseous | 606893 | C1847197 | OMIM | 1 | | 40 | 17233 | 606421 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ELMO2 CL E G H | 63916 | 606893 | Vascular malformation, primary intraosseous | 606893 | C1847197 | OMIM | 1 | | 41 | 17233 | 606421 |
HP:0000572 | HP:0000572 | Visual loss | 0 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 287 | 3413 | 607566 |
HP:0000572 | HP:0000572 | Visual loss | 0 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 336 | 3413 | 607566 |
HP:0000572 | HP:0000572 | Visual loss | 0 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 326 | 24682 | 609144 |
HP:0000572 | HP:0000572 | Visual loss | 0 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 391 | 24682 | 609144 |
HP:0000572 | HP:0000572 | Visual loss | 0 | FOXC1 CL E G H | 2296 | 250923 | | | | ORPHA | 1 | | 253 | 3800 | 601090 |
HP:0000572 | HP:0000572 | Visual loss | 0 | FOXC1 CL E G H | 2296 | 250923 | | | | ORPHA | 1 | | 328 | 3800 | 601090 |
HP:0000572 | HP:0000572 | Visual loss | 0 | GATA2 CL E G H | 2624 | 3226 | Lethal chondrodysplasia Seller type | | | ORPHA | 1 | | 849 | 4171 | 137295 |
HP:0000572 | HP:0000572 | Visual loss | 0 | GATA2 CL E G H | 2624 | 3226 | Lethal chondrodysplasia Seller type | | | ORPHA | 1 | | 988 | 4171 | 137295 |
HP:0000572 | HP:0000572 | Visual loss | 0 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 1 | | 129 | 4379 | 139313 |
HP:0000572 | HP:0000572 | Visual loss | 0 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 1 | | 150 | 4379 | 139313 |
HP:0000572 | HP:0000572 | Visual loss | 0 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 1 | | 74 | 4390 | 600998 |
HP:0000572 | HP:0000572 | Visual loss | 0 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 1 | | 75 | 4390 | 600998 |
HP:0000572 | HP:0000572 | Visual loss | 0 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 477 | 4801 | 600890 |
HP:0000572 | HP:0000572 | Visual loss | 0 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 527 | 4801 | 600890 |
HP:0000572 | HP:0000572 | Visual loss | 0 | HARS CL E G H | 3035 | 231183 | | | | ORPHA | 1 | | | 4816 | 142810 |
HP:0000572 | HP:0000572 | Visual loss | 0 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 19 | 4931 | 142800 |
HP:0000572 | HP:0000572 | Visual loss | 0 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 202 | 4800 | 300256 |
HP:0000572 | HP:0000572 | Visual loss | 0 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 213 | 4800 | 300256 |
HP:0000572 | HP:0000572 | Visual loss | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 560 | 5213 | 601860 |
HP:0000572 | HP:0000572 | Visual loss | 0 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 639 | 5213 | 601860 |
HP:0000572 | HP:0000572 | Visual loss | 0 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 851 | 29077 | 614620 |
HP:0000572 | HP:0000572 | Visual loss | 0 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 1098 | 29077 | 614620 |
HP:0000572 | HP:0000572 | Visual loss | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000572 | HP:0000572 | Visual loss | 0 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000572 | HP:0000572 | Visual loss | 0 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 432 | 6494 | 604349 |
HP:0000572 | HP:0000572 | Visual loss | 0 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 835 | 6494 | 604349 |
HP:0000572 | HP:0000572 | Visual loss | 0 | LSS CL E G H | 4047 | 616509 | Cataract 44 | 616509 | C4225300 | OMIM | 1 | | 232 | 6708 | 600909 |
HP:0000572 | HP:0000572 | Visual loss | 0 | LSS CL E G H | 4047 | 616509 | Cataract 44 | 616509 | C4225300 | OMIM | 1 | | 246 | 6708 | 600909 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 518 | 28486 | 611124 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 595 | 28486 | 611124 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MT-ATP6 CL E G H | 4508 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7414 | 516060 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MT-CO3 CL E G H | 4514 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7422 | 516050 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MT-CYB CL E G H | 4519 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7427 | 516020 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MT-ND1 CL E G H | 4535 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7455 | 516000 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MT-ND2 CL E G H | 4536 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7456 | 516001 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MT-ND4 CL E G H | 4538 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7459 | 516003 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MT-ND4L CL E G H | 4539 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7460 | 516004 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MT-ND5 CL E G H | 4540 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7461 | 516005 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MT-ND6 CL E G H | 4541 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7462 | 516006 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MT-TS2 CL E G H | 4575 | 231183 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYO7A CL E G H | 4647 | 231169 | | | | ORPHA | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYO7A CL E G H | 4647 | 231178 | | | | ORPHA | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYO7A CL E G H | 4647 | 231169 | | | | ORPHA | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYO7A CL E G H | 4647 | 231178 | | | | ORPHA | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYO7A CL E G H | 4647 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYO7A CL E G H | 4647 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 247 | 21576 | 608072 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 289 | 21576 | 608072 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NHS CL E G H | 4810 | 627 | | | | ORPHA | 1 | | 405 | 7820 | 300457 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NHS CL E G H | 4810 | 627 | | | | ORPHA | 1 | | 421 | 7820 | 300457 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NHS CL E G H | 4810 | 302350 | Nance-Horan syndrome | 302350 | C0796085 | OMIM | 1 | | 405 | 7820 | 300457 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NHS CL E G H | 4810 | 302350 | Nance-Horan syndrome | 302350 | C0796085 | OMIM | 1 | | 421 | 7820 | 300457 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PAX6 CL E G H | 5080 | 250923 | | | | ORPHA | 1 | | 577 | 8620 | 607108 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PAX6 CL E G H | 5080 | 250923 | | | | ORPHA | 1 | | 632 | 8620 | 607108 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PCDH15 CL E G H | 65217 | 231169 | | | | ORPHA | 1 | | 1709 | 14674 | 605514 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PCDH15 CL E G H | 65217 | 231169 | | | | ORPHA | 1 | | 1985 | 14674 | 605514 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PCYT1A CL E G H | 5130 | 85167 | | | | ORPHA | 1 | | 209 | 8754 | 123695 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PCYT1A CL E G H | 5130 | 85167 | | | | ORPHA | 1 | | 261 | 8754 | 123695 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PDZD7 CL E G H | 79955 | 231178 | | | | ORPHA | 1 | | 433 | 26257 | 612971 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PDZD7 CL E G H | 79955 | 231178 | | | | ORPHA | 1 | | 607 | 26257 | 612971 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PEX13 CL E G H | 5194 | 614885 | Peroxisome biogenesis disorder 11B | 614885 | C3554001 | OMIM | 1 | | 234 | 8855 | 601789 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PEX13 CL E G H | 5194 | 614885 | Peroxisome biogenesis disorder 11B | 614885 | C3554001 | OMIM | 1 | | 342 | 8855 | 601789 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 431 | 9039 | 603604 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 513 | 9039 | 603604 |
HP:0000572 | HP:0000572 | Visual loss | 0 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 216 | 9173 | 312040 |
HP:0000572 | HP:0000572 | Visual loss | 0 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 321 | 9173 | 312040 |
HP:0000572 | HP:0000572 | Visual loss | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0000572 | HP:0000572 | Visual loss | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 197 | 9349 | 614161 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 216 | 9349 | 614161 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 303 | 9462 | 311850 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 321 | 9462 | 311850 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 1 | | 68 | 10768 | 605590 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 155 | 10938 | 603941 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 168 | 10938 | 603941 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 724 | 29090 | 614982 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 859 | 29090 | 614982 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 71 | 13771 | 605740 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 80 | 13771 | 605740 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 1 | | 155 | 11195 | 184429 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 1 | | 160 | 11195 | 184429 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SRD5A3 CL E G H | 79644 | 612379 | Congenital disorder of glycosylation type 1Q | 612379 | C3150191 | OMIM | 1 | | 173 | 25812 | 611715 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SRD5A3 CL E G H | 79644 | 612379 | Congenital disorder of glycosylation type 1Q | 612379 | C3150191 | OMIM | 1 | | 189 | 25812 | 611715 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 243 | 10872 | 604402 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 283 | 10872 | 604402 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 666 | 29203 | 613577 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 738 | 29203 | 613577 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TCOF1 CL E G H | 6949 | 154500 | Treacher Collins syndrome 1 | 154500 | CN119605 | OMIM | 1 | | 387 | 11654 | 606847 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TCOF1 CL E G H | 6949 | 154500 | Treacher Collins syndrome 1 | 154500 | CN119605 | OMIM | 1 | | 438 | 11654 | 606847 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 237 | 11758 | 602498 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 263 | 11758 | 602498 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRIM44 CL E G H | 54765 | 250923 | | | | ORPHA | 1 | | 27 | 19016 | 612298 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TRIM44 CL E G H | 54765 | 250923 | | | | ORPHA | 1 | | 29 | 19016 | 612298 |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH1C CL E G H | 10083 | 231169 | | | | ORPHA | 1 | | 733 | 12597 | 605242 |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH1C CL E G H | 10083 | 231169 | | | | ORPHA | 1 | | 812 | 12597 | 605242 |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH1C CL E G H | 10083 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 733 | 12597 | 605242 |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH1C CL E G H | 10083 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 812 | 12597 | 605242 |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH1G CL E G H | 124590 | 231169 | | | | ORPHA | 1 | | 247 | 16356 | 607696 |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH1G CL E G H | 124590 | 231169 | | | | ORPHA | 1 | | 303 | 16356 | 607696 |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH2A CL E G H | 7399 | 231178 | | | | ORPHA | 1 | | 4061 | 12601 | 608400 |
HP:0000572 | HP:0000572 | Visual loss | 0 | USH2A CL E G H | 7399 | 231178 | | | | ORPHA | 1 | | 4828 | 12601 | 608400 |
HP:0000572 | HP:0000572 | Visual loss | 0 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 783 | 2464 | 118661 |
HP:0000572 | HP:0000572 | Visual loss | 0 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 1111 | 2464 | 118661 |
HP:0000572 | HP:0000572 | Visual loss | 0 | WHRN CL E G H | 25861 | 231178 | | | | ORPHA | 1 | | 500 | 16361 | 607928 |
HP:0000572 | HP:0000572 | Visual loss | 0 | WHRN CL E G H | 25861 | 231178 | | | | ORPHA | 1 | | 625 | 16361 | 607928 |
HP:0000572 | HP:0000572 | Visual loss | 0 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 83 | 15517 | 608125 |
HP:0000572 | HP:0000572 | Visual loss | 0 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 130 | 15517 | 608125 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 916 | 23216 | 612078 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 1190 | 23216 | 612078 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZNF469 CL E G H | 84627 | 229200 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility | 229200 | C0268344 | OMIM | 1 | | 916 | 23216 | 612078 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZNF469 CL E G H | 84627 | 229200 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility | 229200 | C0268344 | OMIM | 1 | | 1190 | 23216 | 612078 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 108 | 12309 | 604500 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 109 | 12309 | 604500 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2128 | 34 | 601691 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2534 | 34 | 601691 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2128 | 34 | 601691 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2534 | 34 | 601691 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 966 | 61 | 300371 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1065 | 61 | 300371 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 966 | 61 | 300371 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1065 | 61 | 300371 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ADGRV1 CL E G H | 84059 | 231178 | | | | ORPHA | 1 | | 2459 | 17416 | 602851 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ADGRV1 CL E G H | 84059 | 231178 | | | | ORPHA | 1 | | 3168 | 17416 | 602851 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ADGRV1 CL E G H | 84059 | 231178 | | | | ORPHA | 1 | | 2459 | 17416 | 602851 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ADGRV1 CL E G H | 84059 | 231178 | | | | ORPHA | 1 | | 3168 | 17416 | 602851 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ARSG CL E G H | 22901 | 231183 | | | | ORPHA | 1 | | 174 | 24102 | 610008 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ARSG CL E G H | 22901 | 231183 | | | | ORPHA | 1 | | 250 | 24102 | 610008 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ARSG CL E G H | 22901 | 231183 | | | | ORPHA | 1 | | 174 | 24102 | 610008 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ARSG CL E G H | 22901 | 231183 | | | | ORPHA | 1 | | 250 | 24102 | 610008 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 245 | 756 | 608034 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 281 | 756 | 608034 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 245 | 756 | 608034 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 281 | 756 | 608034 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 37 | 10560 | 607640 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 39 | 10560 | 607640 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 37 | 10560 | 607640 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 39 | 10560 | 607640 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 366 | 1122 | 609019 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 409 | 1122 | 609019 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 366 | 1122 | 609019 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 409 | 1122 | 609019 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | C1QTNF5 CL E G H | 114902 | 605670 | Late-onset retinal degeneration | 605670 | C1854065 | OMIM | 1 | | 413 | 14344 | 608752 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | C1QTNF5 CL E G H | 114902 | 605670 | Late-onset retinal degeneration | 605670 | C1854065 | OMIM | 1 | | 521 | 14344 | 608752 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | C1QTNF5 CL E G H | 114902 | 605670 | Late-onset retinal degeneration | 605670 | C1854065 | OMIM | 1 | | 413 | 14344 | 608752 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | C1QTNF5 CL E G H | 114902 | 605670 | Late-onset retinal degeneration | 605670 | C1854065 | OMIM | 1 | | 521 | 14344 | 608752 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 2612 | 13733 | 605516 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 3075 | 13733 | 605516 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 2612 | 13733 | 605516 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 3075 | 13733 | 605516 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CEP78 CL E G H | 84131 | 231183 | | | | ORPHA | 1 | | 285 | 25740 | 617110 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CEP78 CL E G H | 84131 | 231183 | | | | ORPHA | 1 | | 389 | 25740 | 617110 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CEP78 CL E G H | 84131 | 231183 | | | | ORPHA | 1 | | 285 | 25740 | 617110 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CEP78 CL E G H | 84131 | 231183 | | | | ORPHA | 1 | | 389 | 25740 | 617110 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 137 | 24579 | 605564 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 163 | 24579 | 605564 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 137 | 24579 | 605564 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 163 | 24579 | 605564 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 388 | 2025 | 602727 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 549 | 2025 | 602727 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 388 | 2025 | 602727 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 549 | 2025 | 602727 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CLRN1 CL E G H | 7401 | 231183 | | | | ORPHA | 1 | | 242 | 12605 | 606397 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CLRN1 CL E G H | 7401 | 231183 | | | | ORPHA | 1 | | 272 | 12605 | 606397 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CLRN1 CL E G H | 7401 | 231183 | | | | ORPHA | 1 | | 242 | 12605 | 606397 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CLRN1 CL E G H | 7401 | 231183 | | | | ORPHA | 1 | | 272 | 12605 | 606397 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | COL4A1 CL E G H | 1282 | 180000 | Retinal arteries, tortuosity of | 180000 | C1867327 | OMIM | 1 | | 837 | 2202 | 120130 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | COL4A1 CL E G H | 1282 | 180000 | Retinal arteries, tortuosity of | 180000 | C1867327 | OMIM | 1 | | 1010 | 2202 | 120130 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | COL4A1 CL E G H | 1282 | 180000 | Retinal arteries, tortuosity of | 180000 | C1867327 | OMIM | 1 | | 837 | 2202 | 120130 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | COL4A1 CL E G H | 1282 | 180000 | Retinal arteries, tortuosity of | 180000 | C1867327 | OMIM | 1 | | 1010 | 2202 | 120130 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 137 | 25223 | 609825 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 171 | 25223 | 609825 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 137 | 25223 | 609825 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 171 | 25223 | 609825 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 413 | 2529 | 116840 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 465 | 2529 | 116840 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 413 | 2529 | 116840 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 465 | 2529 | 116840 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 1 | | 65 | 18274 | 605666 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 1 | | 67 | 18274 | 605666 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 1 | | 65 | 18274 | 605666 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 1 | | 67 | 18274 | 605666 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ELMO2 CL E G H | 63916 | 606893 | Vascular malformation, primary intraosseous | 606893 | C1847197 | OMIM | 1 | | 40 | 17233 | 606421 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ELMO2 CL E G H | 63916 | 606893 | Vascular malformation, primary intraosseous | 606893 | C1847197 | OMIM | 1 | | 41 | 17233 | 606421 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ELMO2 CL E G H | 63916 | 606893 | Vascular malformation, primary intraosseous | 606893 | C1847197 | OMIM | 1 | | 40 | 17233 | 606421 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ELMO2 CL E G H | 63916 | 606893 | Vascular malformation, primary intraosseous | 606893 | C1847197 | OMIM | 1 | | 41 | 17233 | 606421 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 287 | 3413 | 607566 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 336 | 3413 | 607566 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 287 | 3413 | 607566 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 336 | 3413 | 607566 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 326 | 24682 | 609144 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 391 | 24682 | 609144 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 326 | 24682 | 609144 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 391 | 24682 | 609144 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | FOXC1 CL E G H | 2296 | 250923 | | | | ORPHA | 1 | | 253 | 3800 | 601090 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | FOXC1 CL E G H | 2296 | 250923 | | | | ORPHA | 1 | | 328 | 3800 | 601090 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | FOXC1 CL E G H | 2296 | 250923 | | | | ORPHA | 1 | | 253 | 3800 | 601090 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | FOXC1 CL E G H | 2296 | 250923 | | | | ORPHA | 1 | | 328 | 3800 | 601090 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | GATA2 CL E G H | 2624 | 3226 | Lethal chondrodysplasia Seller type | | | ORPHA | 1 | | 849 | 4171 | 137295 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | GATA2 CL E G H | 2624 | 3226 | Lethal chondrodysplasia Seller type | | | ORPHA | 1 | | 988 | 4171 | 137295 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | GATA2 CL E G H | 2624 | 3226 | Lethal chondrodysplasia Seller type | | | ORPHA | 1 | | 849 | 4171 | 137295 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | GATA2 CL E G H | 2624 | 3226 | Lethal chondrodysplasia Seller type | | | ORPHA | 1 | | 988 | 4171 | 137295 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 1 | | 129 | 4379 | 139313 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 1 | | 150 | 4379 | 139313 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 1 | | 129 | 4379 | 139313 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 1 | | 150 | 4379 | 139313 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 1 | | 74 | 4390 | 600998 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 1 | | 75 | 4390 | 600998 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 1 | | 74 | 4390 | 600998 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 1 | | 75 | 4390 | 600998 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 477 | 4801 | 600890 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 527 | 4801 | 600890 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 477 | 4801 | 600890 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 527 | 4801 | 600890 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | HARS CL E G H | 3035 | 231183 | | | | ORPHA | 1 | | | 4816 | 142810 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | HARS CL E G H | 3035 | 231183 | | | | ORPHA | 1 | | | 4816 | 142810 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 19 | 4931 | 142800 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 19 | 4931 | 142800 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 202 | 4800 | 300256 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 213 | 4800 | 300256 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 202 | 4800 | 300256 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 213 | 4800 | 300256 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 560 | 5213 | 601860 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 639 | 5213 | 601860 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 560 | 5213 | 601860 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 639 | 5213 | 601860 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 851 | 29077 | 614620 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 1098 | 29077 | 614620 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 851 | 29077 | 614620 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 1098 | 29077 | 614620 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 432 | 6494 | 604349 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 835 | 6494 | 604349 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 432 | 6494 | 604349 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 835 | 6494 | 604349 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | LSS CL E G H | 4047 | 616509 | Cataract 44 | 616509 | C4225300 | OMIM | 1 | | 232 | 6708 | 600909 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | LSS CL E G H | 4047 | 616509 | Cataract 44 | 616509 | C4225300 | OMIM | 1 | | 246 | 6708 | 600909 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | LSS CL E G H | 4047 | 616509 | Cataract 44 | 616509 | C4225300 | OMIM | 1 | | 232 | 6708 | 600909 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | LSS CL E G H | 4047 | 616509 | Cataract 44 | 616509 | C4225300 | OMIM | 1 | | 246 | 6708 | 600909 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 518 | 28486 | 611124 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 595 | 28486 | 611124 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 518 | 28486 | 611124 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 595 | 28486 | 611124 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MT-ATP6 CL E G H | 4508 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7414 | 516060 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MT-ATP6 CL E G H | 4508 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7414 | 516060 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MT-CO3 CL E G H | 4514 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7422 | 516050 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MT-CO3 CL E G H | 4514 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7422 | 516050 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MT-CYB CL E G H | 4519 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7427 | 516020 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MT-CYB CL E G H | 4519 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7427 | 516020 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MT-ND1 CL E G H | 4535 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7455 | 516000 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MT-ND1 CL E G H | 4535 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7455 | 516000 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MT-ND2 CL E G H | 4536 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7456 | 516001 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MT-ND2 CL E G H | 4536 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7456 | 516001 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MT-ND4 CL E G H | 4538 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7459 | 516003 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MT-ND4 CL E G H | 4538 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7459 | 516003 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MT-ND4L CL E G H | 4539 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7460 | 516004 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MT-ND4L CL E G H | 4539 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7460 | 516004 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MT-ND5 CL E G H | 4540 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7461 | 516005 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MT-ND5 CL E G H | 4540 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7461 | 516005 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MT-ND6 CL E G H | 4541 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7462 | 516006 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MT-ND6 CL E G H | 4541 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7462 | 516006 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MT-TS2 CL E G H | 4575 | 231183 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MT-TS2 CL E G H | 4575 | 231183 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MYO7A CL E G H | 4647 | 231169 | | | | ORPHA | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MYO7A CL E G H | 4647 | 231178 | | | | ORPHA | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MYO7A CL E G H | 4647 | 231169 | | | | ORPHA | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MYO7A CL E G H | 4647 | 231178 | | | | ORPHA | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MYO7A CL E G H | 4647 | 231169 | | | | ORPHA | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MYO7A CL E G H | 4647 | 231178 | | | | ORPHA | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MYO7A CL E G H | 4647 | 231169 | | | | ORPHA | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MYO7A CL E G H | 4647 | 231178 | | | | ORPHA | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MYO7A CL E G H | 4647 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MYO7A CL E G H | 4647 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | MYO7A CL E G H | 4647 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | MYO7A CL E G H | 4647 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 247 | 21576 | 608072 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 289 | 21576 | 608072 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 247 | 21576 | 608072 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 289 | 21576 | 608072 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NHS CL E G H | 4810 | 627 | | | | ORPHA | 1 | | 405 | 7820 | 300457 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | NHS CL E G H | 4810 | 627 | | | | ORPHA | 1 | | 421 | 7820 | 300457 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | NHS CL E G H | 4810 | 627 | | | | ORPHA | 1 | | 405 | 7820 | 300457 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NHS CL E G H | 4810 | 627 | | | | ORPHA | 1 | | 421 | 7820 | 300457 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NHS CL E G H | 4810 | 302350 | Nance-Horan syndrome | 302350 | C0796085 | OMIM | 1 | | 405 | 7820 | 300457 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | NHS CL E G H | 4810 | 302350 | Nance-Horan syndrome | 302350 | C0796085 | OMIM | 1 | | 421 | 7820 | 300457 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | NHS CL E G H | 4810 | 302350 | Nance-Horan syndrome | 302350 | C0796085 | OMIM | 1 | | 405 | 7820 | 300457 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | NHS CL E G H | 4810 | 302350 | Nance-Horan syndrome | 302350 | C0796085 | OMIM | 1 | | 421 | 7820 | 300457 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PAX6 CL E G H | 5080 | 250923 | | | | ORPHA | 1 | | 577 | 8620 | 607108 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PAX6 CL E G H | 5080 | 250923 | | | | ORPHA | 1 | | 632 | 8620 | 607108 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PAX6 CL E G H | 5080 | 250923 | | | | ORPHA | 1 | | 577 | 8620 | 607108 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PAX6 CL E G H | 5080 | 250923 | | | | ORPHA | 1 | | 632 | 8620 | 607108 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PCDH15 CL E G H | 65217 | 231169 | | | | ORPHA | 1 | | 1709 | 14674 | 605514 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PCDH15 CL E G H | 65217 | 231169 | | | | ORPHA | 1 | | 1985 | 14674 | 605514 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PCDH15 CL E G H | 65217 | 231169 | | | | ORPHA | 1 | | 1709 | 14674 | 605514 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PCDH15 CL E G H | 65217 | 231169 | | | | ORPHA | 1 | | 1985 | 14674 | 605514 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PCYT1A CL E G H | 5130 | 85167 | | | | ORPHA | 1 | | 209 | 8754 | 123695 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PCYT1A CL E G H | 5130 | 85167 | | | | ORPHA | 1 | | 261 | 8754 | 123695 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PCYT1A CL E G H | 5130 | 85167 | | | | ORPHA | 1 | | 209 | 8754 | 123695 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PCYT1A CL E G H | 5130 | 85167 | | | | ORPHA | 1 | | 261 | 8754 | 123695 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PDZD7 CL E G H | 79955 | 231178 | | | | ORPHA | 1 | | 433 | 26257 | 612971 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PDZD7 CL E G H | 79955 | 231178 | | | | ORPHA | 1 | | 607 | 26257 | 612971 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PDZD7 CL E G H | 79955 | 231178 | | | | ORPHA | 1 | | 433 | 26257 | 612971 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PDZD7 CL E G H | 79955 | 231178 | | | | ORPHA | 1 | | 607 | 26257 | 612971 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PEX13 CL E G H | 5194 | 614885 | Peroxisome biogenesis disorder 11B | 614885 | C3554001 | OMIM | 1 | | 234 | 8855 | 601789 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PEX13 CL E G H | 5194 | 614885 | Peroxisome biogenesis disorder 11B | 614885 | C3554001 | OMIM | 1 | | 342 | 8855 | 601789 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PEX13 CL E G H | 5194 | 614885 | Peroxisome biogenesis disorder 11B | 614885 | C3554001 | OMIM | 1 | | 234 | 8855 | 601789 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PEX13 CL E G H | 5194 | 614885 | Peroxisome biogenesis disorder 11B | 614885 | C3554001 | OMIM | 1 | | 342 | 8855 | 601789 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 431 | 9039 | 603604 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 513 | 9039 | 603604 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 431 | 9039 | 603604 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 513 | 9039 | 603604 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 216 | 9173 | 312040 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 321 | 9173 | 312040 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 216 | 9173 | 312040 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 321 | 9173 | 312040 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 197 | 9349 | 614161 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 216 | 9349 | 614161 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 197 | 9349 | 614161 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 216 | 9349 | 614161 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 303 | 9462 | 311850 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 321 | 9462 | 311850 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 303 | 9462 | 311850 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 321 | 9462 | 311850 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 1 | | 68 | 10768 | 605590 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 1 | | 68 | 10768 | 605590 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 155 | 10938 | 603941 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 168 | 10938 | 603941 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 155 | 10938 | 603941 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 168 | 10938 | 603941 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 724 | 29090 | 614982 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 859 | 29090 | 614982 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 724 | 29090 | 614982 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 859 | 29090 | 614982 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 71 | 13771 | 605740 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 80 | 13771 | 605740 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 71 | 13771 | 605740 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 80 | 13771 | 605740 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 1 | | 155 | 11195 | 184429 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 1 | | 160 | 11195 | 184429 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 1 | | 155 | 11195 | 184429 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 1 | | 160 | 11195 | 184429 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SRD5A3 CL E G H | 79644 | 612379 | Congenital disorder of glycosylation type 1Q | 612379 | C3150191 | OMIM | 1 | | 173 | 25812 | 611715 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SRD5A3 CL E G H | 79644 | 612379 | Congenital disorder of glycosylation type 1Q | 612379 | C3150191 | OMIM | 1 | | 189 | 25812 | 611715 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | SRD5A3 CL E G H | 79644 | 612379 | Congenital disorder of glycosylation type 1Q | 612379 | C3150191 | OMIM | 1 | | 173 | 25812 | 611715 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | SRD5A3 CL E G H | 79644 | 612379 | Congenital disorder of glycosylation type 1Q | 612379 | C3150191 | OMIM | 1 | | 189 | 25812 | 611715 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 243 | 10872 | 604402 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 283 | 10872 | 604402 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 243 | 10872 | 604402 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 283 | 10872 | 604402 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 666 | 29203 | 613577 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 738 | 29203 | 613577 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 666 | 29203 | 613577 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 738 | 29203 | 613577 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TCOF1 CL E G H | 6949 | 154500 | Treacher Collins syndrome 1 | 154500 | CN119605 | OMIM | 1 | | 387 | 11654 | 606847 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | TCOF1 CL E G H | 6949 | 154500 | Treacher Collins syndrome 1 | 154500 | CN119605 | OMIM | 1 | | 438 | 11654 | 606847 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | TCOF1 CL E G H | 6949 | 154500 | Treacher Collins syndrome 1 | 154500 | CN119605 | OMIM | 1 | | 387 | 11654 | 606847 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TCOF1 CL E G H | 6949 | 154500 | Treacher Collins syndrome 1 | 154500 | CN119605 | OMIM | 1 | | 438 | 11654 | 606847 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 237 | 11758 | 602498 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 263 | 11758 | 602498 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 237 | 11758 | 602498 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 263 | 11758 | 602498 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TRIM44 CL E G H | 54765 | 250923 | | | | ORPHA | 1 | | 27 | 19016 | 612298 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | TRIM44 CL E G H | 54765 | 250923 | | | | ORPHA | 1 | | 29 | 19016 | 612298 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | TRIM44 CL E G H | 54765 | 250923 | | | | ORPHA | 1 | | 27 | 19016 | 612298 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | TRIM44 CL E G H | 54765 | 250923 | | | | ORPHA | 1 | | 29 | 19016 | 612298 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | USH1C CL E G H | 10083 | 231169 | | | | ORPHA | 1 | | 733 | 12597 | 605242 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | USH1C CL E G H | 10083 | 231169 | | | | ORPHA | 1 | | 812 | 12597 | 605242 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | USH1C CL E G H | 10083 | 231169 | | | | ORPHA | 1 | | 733 | 12597 | 605242 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | USH1C CL E G H | 10083 | 231169 | | | | ORPHA | 1 | | 812 | 12597 | 605242 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | USH1C CL E G H | 10083 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 733 | 12597 | 605242 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | USH1C CL E G H | 10083 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 812 | 12597 | 605242 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | USH1C CL E G H | 10083 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 733 | 12597 | 605242 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | USH1C CL E G H | 10083 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 812 | 12597 | 605242 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | USH1G CL E G H | 124590 | 231169 | | | | ORPHA | 1 | | 247 | 16356 | 607696 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | USH1G CL E G H | 124590 | 231169 | | | | ORPHA | 1 | | 303 | 16356 | 607696 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | USH1G CL E G H | 124590 | 231169 | | | | ORPHA | 1 | | 247 | 16356 | 607696 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | USH1G CL E G H | 124590 | 231169 | | | | ORPHA | 1 | | 303 | 16356 | 607696 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | USH2A CL E G H | 7399 | 231178 | | | | ORPHA | 1 | | 4061 | 12601 | 608400 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | USH2A CL E G H | 7399 | 231178 | | | | ORPHA | 1 | | 4828 | 12601 | 608400 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | USH2A CL E G H | 7399 | 231178 | | | | ORPHA | 1 | | 4061 | 12601 | 608400 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | USH2A CL E G H | 7399 | 231178 | | | | ORPHA | 1 | | 4828 | 12601 | 608400 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 783 | 2464 | 118661 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 1111 | 2464 | 118661 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 783 | 2464 | 118661 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 1111 | 2464 | 118661 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | WHRN CL E G H | 25861 | 231178 | | | | ORPHA | 1 | | 500 | 16361 | 607928 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | WHRN CL E G H | 25861 | 231178 | | | | ORPHA | 1 | | 625 | 16361 | 607928 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | WHRN CL E G H | 25861 | 231178 | | | | ORPHA | 1 | | 500 | 16361 | 607928 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | WHRN CL E G H | 25861 | 231178 | | | | ORPHA | 1 | | 625 | 16361 | 607928 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 83 | 15517 | 608125 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 130 | 15517 | 608125 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 83 | 15517 | 608125 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 130 | 15517 | 608125 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 916 | 23216 | 612078 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 1190 | 23216 | 612078 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 916 | 23216 | 612078 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 1190 | 23216 | 612078 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ZNF469 CL E G H | 84627 | 229200 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility | 229200 | C0268344 | OMIM | 1 | | 916 | 23216 | 612078 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ZNF469 CL E G H | 84627 | 229200 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility | 229200 | C0268344 | OMIM | 1 | | 1190 | 23216 | 612078 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ZNF469 CL E G H | 84627 | 229200 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility | 229200 | C0268344 | OMIM | 1 | | 916 | 23216 | 612078 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ZNF469 CL E G H | 84627 | 229200 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility | 229200 | C0268344 | OMIM | 1 | | 1190 | 23216 | 612078 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 108 | 12309 | 604500 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 109 | 12309 | 604500 |
HP:0000572 | HP:0200068 | Nonprogressive visual loss | 1 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 108 | 12309 | 604500 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 109 | 12309 | 604500 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2534 | 34 | 601691 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ABCA4 CL E G H | 24 | 604116 | Cone-rod dystrophy 3 | 604116 | C1858806 | OMIM | 1 | | 2128 | 34 | 601691 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 1065 | 61 | 300371 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ABCD1 CL E G H | 215 | 300100 | Adrenoleukodystrophy | 300100 | C0162309 | OMIM | 1 | | 966 | 61 | 300371 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ADGRV1 CL E G H | 84059 | 231178 | | | | ORPHA | 1 | | 3168 | 17416 | 602851 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ADGRV1 CL E G H | 84059 | 231178 | | | | ORPHA | 1 | | 2459 | 17416 | 602851 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 3342 | 428 | 606844 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ALMS1 CL E G H | 7840 | 203800 | Alstrom syndrome | 203800 | C0268425 | OMIM | 1 | | 2504 | 428 | 606844 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ARSG CL E G H | 22901 | 231183 | | | | ORPHA | 1 | | 250 | 24102 | 610008 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ARSG CL E G H | 22901 | 231183 | | | | ORPHA | 1 | | 174 | 24102 | 610008 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 281 | 756 | 608034 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 245 | 756 | 608034 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 39 | 10560 | 607640 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ATXN7 CL E G H | 6314 | 94147 | | | | ORPHA | 1 | | 37 | 10560 | 607640 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 1 | | 1683 | 950 | 603089 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 1 | | 1514 | 950 | 603089 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 536 | 20893 | 300485 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | BCOR CL E G H | 54880 | 300166 | Oculofaciocardiodental syndrome | 300166 | C1846265 | OMIM | 1 | | 502 | 20893 | 300485 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 409 | 1122 | 609019 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 366 | 1122 | 609019 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | C1QTNF5 CL E G H | 114902 | 605670 | Late-onset retinal degeneration | 605670 | C1854065 | OMIM | 1 | | 521 | 14344 | 608752 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | C1QTNF5 CL E G H | 114902 | 605670 | Late-onset retinal degeneration | 605670 | C1854065 | OMIM | 1 | | 413 | 14344 | 608752 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 119 | 1373 | 611492 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CA2 CL E G H | 760 | 259730 | Osteopetrosis with renal tubular acidosis | 259730 | C0345407 | OMIM | 1 | | 104 | 1373 | 611492 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 3075 | 13733 | 605516 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CDH23 CL E G H | 64072 | 231169 | | | | ORPHA | 1 | | 2612 | 13733 | 605516 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CEP78 CL E G H | 84131 | 231183 | | | | ORPHA | 1 | | 389 | 25740 | 617110 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CEP78 CL E G H | 84131 | 231183 | | | | ORPHA | 1 | | 285 | 25740 | 617110 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 163 | 24579 | 605564 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CIB2 CL E G H | 10518 | 231169 | | | | ORPHA | 1 | | 137 | 24579 | 605564 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 549 | 2025 | 602727 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 388 | 2025 | 602727 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CLRN1 CL E G H | 7401 | 231183 | | | | ORPHA | 1 | | 272 | 12605 | 606397 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CLRN1 CL E G H | 7401 | 231183 | | | | ORPHA | 1 | | 242 | 12605 | 606397 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | COL4A1 CL E G H | 1282 | 180000 | Retinal arteries, tortuosity of | 180000 | C1867327 | OMIM | 1 | | 1010 | 2202 | 120130 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | COL4A1 CL E G H | 1282 | 180000 | Retinal arteries, tortuosity of | 180000 | C1867327 | OMIM | 1 | | 837 | 2202 | 120130 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 171 | 25223 | 609825 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | COQ2 CL E G H | 27235 | 607426 | Coenzyme Q10 deficiency, primary 1 | 607426 | C1843920 | OMIM | 1 | | 137 | 25223 | 609825 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 465 | 2529 | 116840 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CTSD CL E G H | 1509 | 610127 | Ceroid lipofuscinosis neuronal 10 | 610127 | C1864669 | OMIM | 1 | | 413 | 2529 | 116840 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 1 | | 67 | 18274 | 605666 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 1 | | 65 | 18274 | 605666 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ELMO2 CL E G H | 63916 | 606893 | Vascular malformation, primary intraosseous | 606893 | C1847197 | OMIM | 1 | | 41 | 17233 | 606421 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ELMO2 CL E G H | 63916 | 606893 | Vascular malformation, primary intraosseous | 606893 | C1847197 | OMIM | 1 | | 40 | 17233 | 606421 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 336 | 3413 | 607566 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | EPM2A CL E G H | 7957 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 287 | 3413 | 607566 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 391 | 24682 | 609144 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | FLVCR1 CL E G H | 28982 | 88628 | | | | ORPHA | 1 | | 326 | 24682 | 609144 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | FOXC1 CL E G H | 2296 | 250923 | | | | ORPHA | 1 | | 328 | 3800 | 601090 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | FOXC1 CL E G H | 2296 | 250923 | | | | ORPHA | 1 | | 253 | 3800 | 601090 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | GATA2 CL E G H | 2624 | 3226 | Lethal chondrodysplasia Seller type | | | ORPHA | 1 | | 988 | 4171 | 137295 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | GATA2 CL E G H | 2624 | 3226 | Lethal chondrodysplasia Seller type | | | ORPHA | 1 | | 849 | 4171 | 137295 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 1 | | 150 | 4379 | 139313 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 1 | | 129 | 4379 | 139313 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 1 | | 75 | 4390 | 600998 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 1 | | 74 | 4390 | 600998 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 527 | 4801 | 600890 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | HADHA CL E G H | 3030 | 5 | | | | ORPHA | 1 | | 477 | 4801 | 600890 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | HARS CL E G H | 3035 | 231183 | | | | ORPHA | 1 | | | 4816 | 142810 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | HLA-A CL E G H | 3105 | 179 | Macrothrombocytopenia progressive deafness | | | ORPHA | 1 | | 19 | 4931 | 142800 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 213 | 4800 | 300256 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 202 | 4800 | 300256 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 639 | 5213 | 601860 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | HSD17B4 CL E G H | 3295 | 261515 | Bifunctional peroxisomal enzyme deficiency | 261515 | C0342870 | OMIM | 1 | | 560 | 5213 | 601860 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 1098 | 29077 | 614620 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 851 | 29077 | 614620 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1735 | 888 | 601255 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | KIF1A CL E G H | 547 | 2836 | | | | ORPHA | 1 | | 1441 | 888 | 601255 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 835 | 6494 | 604349 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | LAMC3 CL E G H | 10319 | 614115 | Cortical malformations, occipital | 614115 | C3279875 | OMIM | 1 | | 432 | 6494 | 604349 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | LSS CL E G H | 4047 | 616509 | Cataract 44 | 616509 | C4225300 | OMIM | 1 | | 246 | 6708 | 600909 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | LSS CL E G H | 4047 | 616509 | Cataract 44 | 616509 | C4225300 | OMIM | 1 | | 232 | 6708 | 600909 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 595 | 28486 | 611124 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MFSD8 CL E G H | 256471 | 610951 | Ceroid lipofuscinosis neuronal 7 | 610951 | C1838571 | OMIM | 1 | | 518 | 28486 | 611124 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MT-ATP6 CL E G H | 4508 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7414 | 516060 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MT-CO3 CL E G H | 4514 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7422 | 516050 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MT-CYB CL E G H | 4519 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7427 | 516020 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MT-ND1 CL E G H | 4535 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7455 | 516000 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MT-ND2 CL E G H | 4536 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7456 | 516001 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MT-ND4 CL E G H | 4538 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7459 | 516003 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MT-ND4L CL E G H | 4539 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7460 | 516004 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MT-ND5 CL E G H | 4540 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7461 | 516005 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MT-ND6 CL E G H | 4541 | 535000 | Leber's optic atrophy | 535000 | C0917796 | OMIM | 1 | | | 7462 | 516006 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MT-TS2 CL E G H | 4575 | 231183 | | | | ORPHA | 1 | | | 7498 | 590085 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MYO7A CL E G H | 4647 | 231169 | | | | ORPHA | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MYO7A CL E G H | 4647 | 231178 | | | | ORPHA | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MYO7A CL E G H | 4647 | 231169 | | | | ORPHA | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MYO7A CL E G H | 4647 | 231178 | | | | ORPHA | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MYO7A CL E G H | 4647 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 2516 | 7606 | 276903 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | MYO7A CL E G H | 4647 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 2223 | 7606 | 276903 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 289 | 21576 | 608072 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | NHLRC1 CL E G H | 378884 | 254780 | Lafora disease | 254780 | C0751783 | OMIM | 1 | | 247 | 21576 | 608072 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | NHS CL E G H | 4810 | 627 | | | | ORPHA | 1 | | 421 | 7820 | 300457 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | NHS CL E G H | 4810 | 627 | | | | ORPHA | 1 | | 405 | 7820 | 300457 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | NHS CL E G H | 4810 | 302350 | Nance-Horan syndrome | 302350 | C0796085 | OMIM | 1 | | 421 | 7820 | 300457 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | NHS CL E G H | 4810 | 302350 | Nance-Horan syndrome | 302350 | C0796085 | OMIM | 1 | | 405 | 7820 | 300457 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PAX6 CL E G H | 5080 | 250923 | | | | ORPHA | 1 | | 632 | 8620 | 607108 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PAX6 CL E G H | 5080 | 250923 | | | | ORPHA | 1 | | 577 | 8620 | 607108 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PCDH15 CL E G H | 65217 | 231169 | | | | ORPHA | 1 | | 1985 | 14674 | 605514 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PCDH15 CL E G H | 65217 | 231169 | | | | ORPHA | 1 | | 1709 | 14674 | 605514 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PCYT1A CL E G H | 5130 | 85167 | | | | ORPHA | 1 | | 261 | 8754 | 123695 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PCYT1A CL E G H | 5130 | 85167 | | | | ORPHA | 1 | | 209 | 8754 | 123695 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PDZD7 CL E G H | 79955 | 231178 | | | | ORPHA | 1 | | 607 | 26257 | 612971 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PDZD7 CL E G H | 79955 | 231178 | | | | ORPHA | 1 | | 433 | 26257 | 612971 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PEX13 CL E G H | 5194 | 614885 | Peroxisome biogenesis disorder 11B | 614885 | C3554001 | OMIM | 1 | | 342 | 8855 | 601789 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PEX13 CL E G H | 5194 | 614885 | Peroxisome biogenesis disorder 11B | 614885 | C3554001 | OMIM | 1 | | 234 | 8855 | 601789 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 513 | 9039 | 603604 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 431 | 9039 | 603604 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 321 | 9173 | 312040 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | POLA1 CL E G H | 5422 | 301220 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked | 301220 | C1845050 | OMIM | 1 | | 216 | 9173 | 312040 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1712 | 9179 | 174763 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1470 | 9179 | 174763 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 216 | 9349 | 614161 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PRDM5 CL E G H | 11107 | 90354 | | | | ORPHA | 1 | | 197 | 9349 | 614161 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 321 | 9462 | 311850 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | PRPS1 CL E G H | 5631 | 301835 | Arts syndrome | 301835 | C0796028 | OMIM | 1 | | 303 | 9462 | 311850 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 1 | | 68 | 10768 | 605590 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 168 | 10938 | 603941 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 155 | 10938 | 603941 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 859 | 29090 | 614982 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SMCHD1 CL E G H | 23347 | 2250 | Familial band heterotopia | | | ORPHA | 1 | | 724 | 29090 | 614982 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 80 | 13771 | 605740 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 71 | 13771 | 605740 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 1 | | 160 | 11195 | 184429 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SOX2 CL E G H | 6657 | 77298 | | | | ORPHA | 1 | | 155 | 11195 | 184429 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SRD5A3 CL E G H | 79644 | 612379 | Congenital disorder of glycosylation type 1Q | 612379 | C3150191 | OMIM | 1 | | 189 | 25812 | 611715 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | SRD5A3 CL E G H | 79644 | 612379 | Congenital disorder of glycosylation type 1Q | 612379 | C3150191 | OMIM | 1 | | 173 | 25812 | 611715 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 283 | 10872 | 604402 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 243 | 10872 | 604402 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 738 | 29203 | 613577 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TBC1D24 CL E G H | 57465 | 615338 | Early infantile epileptic encephalopathy 16 | 615338 | C3809173 | OMIM | 1 | | 666 | 29203 | 613577 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TCOF1 CL E G H | 6949 | 154500 | Treacher Collins syndrome 1 | 154500 | CN119605 | OMIM | 1 | | 438 | 11654 | 606847 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TCOF1 CL E G H | 6949 | 154500 | Treacher Collins syndrome 1 | 154500 | CN119605 | OMIM | 1 | | 387 | 11654 | 606847 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 263 | 11758 | 602498 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 237 | 11758 | 602498 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TRIM44 CL E G H | 54765 | 250923 | | | | ORPHA | 1 | | 29 | 19016 | 612298 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | TRIM44 CL E G H | 54765 | 250923 | | | | ORPHA | 1 | | 27 | 19016 | 612298 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | USH1C CL E G H | 10083 | 231169 | | | | ORPHA | 1 | | 812 | 12597 | 605242 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | USH1C CL E G H | 10083 | 231169 | | | | ORPHA | 1 | | 733 | 12597 | 605242 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | USH1C CL E G H | 10083 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 812 | 12597 | 605242 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | USH1C CL E G H | 10083 | 276900 | Usher syndrome, type 1 | 276900 | C1568247 | OMIM | 1 | | 733 | 12597 | 605242 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | USH1G CL E G H | 124590 | 231169 | | | | ORPHA | 1 | | 303 | 16356 | 607696 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | USH1G CL E G H | 124590 | 231169 | | | | ORPHA | 1 | | 247 | 16356 | 607696 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | USH2A CL E G H | 7399 | 231178 | | | | ORPHA | 1 | | 4828 | 12601 | 608400 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | USH2A CL E G H | 7399 | 231178 | | | | ORPHA | 1 | | 4061 | 12601 | 608400 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 1111 | 2464 | 118661 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 783 | 2464 | 118661 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | WHRN CL E G H | 25861 | 231178 | | | | ORPHA | 1 | | 625 | 16361 | 607928 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | WHRN CL E G H | 25861 | 231178 | | | | ORPHA | 1 | | 500 | 16361 | 607928 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 130 | 15517 | 608125 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | XYLT2 CL E G H | 64132 | 85194 | | | | ORPHA | 1 | | 83 | 15517 | 608125 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 1190 | 23216 | 612078 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ZNF469 CL E G H | 84627 | 90354 | | | | ORPHA | 1 | | 916 | 23216 | 612078 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ZNF469 CL E G H | 84627 | 229200 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility | 229200 | C0268344 | OMIM | 1 | | 1190 | 23216 | 612078 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ZNF469 CL E G H | 84627 | 229200 | Corneal fragility keratoglobus, blue sclerae AND joint hypermobility | 229200 | C0268344 | OMIM | 1 | | 916 | 23216 | 612078 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 109 | 12309 | 604500 |
HP:0000572 | HP:0007924 | Slow decrease in visual acuity | 2 | ZNHIT3 CL E G H | 9326 | 2836 | | | | ORPHA | 1 | | 108 | 12309 | 604500 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000572 | HP:0000572 | Visual loss | 0 | ADAMTS10 CL E G H | 81794 | 3449 | Mehes syndrome | | | ORPHA | 0 | | 241 | 13201 | 608990 |
HP:0000572 | HP:0000572 | Visual loss | 0 | ADAMTS10 CL E G H | 81794 | 3449 | Mehes syndrome | | | ORPHA | 0 | | 363 | 13201 | 608990 |
HP:0000572 | HP:0000572 | Visual loss | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 650 | 21575 | 608894 |
HP:0000572 | HP:0000572 | Visual loss | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 0 | | 827 | 21575 | 608894 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 0 | | 2612 | 13733 | 605516 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CDH23 CL E G H | 64072 | 96253 | | | | ORPHA | 0 | | 3075 | 13733 | 605516 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 210 | 26690 | 613446 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 0 | | 250 | 26690 | 613446 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 297 | 12370 | 610523 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 0 | | 347 | 12370 | 610523 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL2A1 CL E G H | 1280 | 90653 | | | | ORPHA | 0 | | 1213 | 2200 | 120140 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL2A1 CL E G H | 1280 | 90653 | | | | ORPHA | 0 | | 1540 | 2200 | 120140 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 0 | | 1658 | 2214 | 120120 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COL7A1 CL E G H | 1294 | 89842 | | | | ORPHA | 0 | | 2028 | 2214 | 120120 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 0 | | 171 | 2291 | 300885 |
HP:0000572 | HP:0000572 | Visual loss | 0 | COX7B CL E G H | 1349 | 2556 | | | | ORPHA | 0 | | 175 | 2291 | 300885 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 476 | 26193 | 611654 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CSPP1 CL E G H | 79848 | 397715 | | | | ORPHA | 0 | | 687 | 26193 | 611654 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CYP1B1 CL E G H | 1545 | 98976 | | | | ORPHA | 0 | | 243 | 2597 | 601771 |
HP:0000572 | HP:0000572 | Visual loss | 0 | CYP1B1 CL E G H | 1545 | 98976 | | | | ORPHA | 0 | | 256 | 2597 | 601771 |
HP:0000572 | HP:0000572 | Visual loss | 0 | FBN1 CL E G H | 2200 | 3449 | Mehes syndrome | | | ORPHA | 0 | | 4968 | 3603 | 134797 |
HP:0000572 | HP:0000572 | Visual loss | 0 | FBN1 CL E G H | 2200 | 3449 | Mehes syndrome | | | ORPHA | 0 | | 5457 | 3603 | 134797 |
HP:0000572 | HP:0000572 | Visual loss | 0 | FGFR2 CL E G H | 2263 | 93259 | | | | ORPHA | 0 | | 466 | 3689 | 176943 |
HP:0000572 | HP:0000572 | Visual loss | 0 | FGFR2 CL E G H | 2263 | 93259 | | | | ORPHA | 0 | | 501 | 3689 | 176943 |
HP:0000572 | HP:0000572 | Visual loss | 0 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 0 | | 214 | 4837 | 300056 |
HP:0000572 | HP:0000572 | Visual loss | 0 | HCCS CL E G H | 3052 | 2556 | | | | ORPHA | 0 | | 220 | 4837 | 300056 |
HP:0000572 | HP:0000572 | Visual loss | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 466 | 21474 | 613037 |
HP:0000572 | HP:0000572 | Visual loss | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 0 | | 559 | 21474 | 613037 |
HP:0000572 | HP:0000572 | Visual loss | 0 | KCTD7 CL E G H | 154881 | 611726 | Epilepsy, progressive myoclonic 3 | 611726 | C2673257 | OMIM | 0 | | 305 | 21957 | 611725 |
HP:0000572 | HP:0000572 | Visual loss | 0 | KCTD7 CL E G H | 154881 | 611726 | Epilepsy, progressive myoclonic 3 | 611726 | C2673257 | OMIM | 0 | | 348 | 21957 | 611725 |
HP:0000572 | HP:0000572 | Visual loss | 0 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 338 | 19960 | 610178 |
HP:0000572 | HP:0000572 | Visual loss | 0 | KIAA0586 CL E G H | 9786 | 397715 | | | | ORPHA | 0 | | 662 | 19960 | 610178 |
HP:0000572 | HP:0000572 | Visual loss | 0 | KIF11 CL E G H | 3832 | 2526 | | | | ORPHA | 0 | | 405 | 6388 | 148760 |
HP:0000572 | HP:0000572 | Visual loss | 0 | KIF11 CL E G H | 3832 | 2526 | | | | ORPHA | 0 | | 498 | 6388 | 148760 |
HP:0000572 | HP:0000572 | Visual loss | 0 | LMNB1 CL E G H | 4001 | 99027 | | | | ORPHA | 0 | | 129 | 6637 | 150340 |
HP:0000572 | HP:0000572 | Visual loss | 0 | LMNB1 CL E G H | 4001 | 99027 | | | | ORPHA | 0 | | 151 | 6637 | 150340 |
HP:0000572 | HP:0000572 | Visual loss | 0 | LTBP2 CL E G H | 4053 | 98976 | | | | ORPHA | 0 | | 402 | 6715 | 602091 |
HP:0000572 | HP:0000572 | Visual loss | 0 | LTBP2 CL E G H | 4053 | 98976 | | | | ORPHA | 0 | | 619 | 6715 | 602091 |
HP:0000572 | HP:0000572 | Visual loss | 0 | LTBP2 CL E G H | 4053 | 3449 | Mehes syndrome | | | ORPHA | 0 | | 402 | 6715 | 602091 |
HP:0000572 | HP:0000572 | Visual loss | 0 | LTBP2 CL E G H | 4053 | 3449 | Mehes syndrome | | | ORPHA | 0 | | 619 | 6715 | 602091 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 477 | 7121 | 609883 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 0 | | 553 | 7121 | 609883 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYOC CL E G H | 4653 | 98976 | | | | ORPHA | 0 | | 131 | 7610 | 601652 |
HP:0000572 | HP:0000572 | Visual loss | 0 | MYOC CL E G H | 4653 | 98976 | | | | ORPHA | 0 | | 160 | 7610 | 601652 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 0 | | 177 | 20372 | 300403 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NDUFB11 CL E G H | 54539 | 2556 | | | | ORPHA | 0 | | 183 | 20372 | 300403 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 561 | 5331 | 605956 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 653 | 5331 | 605956 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NOTCH3 CL E G H | 4854 | 125310 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | C0751587 | OMIM | 0 | | 860 | 7883 | 600276 |
HP:0000572 | HP:0000572 | Visual loss | 0 | NOTCH3 CL E G H | 4854 | 125310 | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 125310 | C0751587 | OMIM | 0 | | 946 | 7883 | 600276 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PGK1 CL E G H | 5230 | 300653 | Phosphoglycerate kinase 1 deficiency | 300653 | C1970848 | OMIM | 0 | | 228 | 8896 | 311800 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PGK1 CL E G H | 5230 | 300653 | Phosphoglycerate kinase 1 deficiency | 300653 | C1970848 | OMIM | 0 | | 245 | 8896 | 311800 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PMPCB CL E G H | 9512 | 617954 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 | 617954 | CN244567 | OMIM | 0 | | 45 | 9119 | 603131 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PMPCB CL E G H | 9512 | 617954 | MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6 | 617954 | CN244567 | OMIM | 0 | | 53 | 9119 | 603131 |
HP:0000572 | HP:0000572 | Visual loss | 0 | PTPN22 CL E G H | 26191 | 397 | Herrmann Opitz arthrogryposis syndrome | | | ORPHA | 0 | | 31 | 9652 | 600716 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 0 | | 155 | 10938 | 603941 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC19A2 CL E G H | 10560 | 49827 | | | | ORPHA | 0 | | 168 | 10938 | 603941 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC52A2 CL E G H | 79581 | 614707 | Brown-Vialetto-Van Laere syndrome 2 | 614707 | C3553538 | OMIM | 0 | | 328 | 30224 | 607882 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SLC52A2 CL E G H | 79581 | 614707 | Brown-Vialetto-Van Laere syndrome 2 | 614707 | C3553538 | OMIM | 0 | | 391 | 30224 | 607882 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SPATA7 CL E G H | 55812 | 604232 | Leber congenital amaurosis 3 | 604232 | C1858677 | OMIM | 0 | | 231 | 20423 | 609868 |
HP:0000572 | HP:0000572 | Visual loss | 0 | SPATA7 CL E G H | 55812 | 604232 | Leber congenital amaurosis 3 | 604232 | C1858677 | OMIM | 0 | | 296 | 20423 | 609868 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TAT CL E G H | 6898 | 28378 | | | | ORPHA | 0 | | 217 | 11573 | 613018 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TAT CL E G H | 6898 | 28378 | | | | ORPHA | 0 | | 235 | 11573 | 613018 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TEK CL E G H | 7010 | 98976 | | | | ORPHA | 0 | | 298 | 11724 | 600221 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TEK CL E G H | 7010 | 98976 | | | | ORPHA | 0 | | 318 | 11724 | 600221 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 205 | 20772 | 602661 |
HP:0000572 | HP:0000572 | Visual loss | 0 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 0 | | 217 | 20772 | 602661 |
HP:0000572 | HP:0000572 | Visual loss | 0 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 0 | | 98 | 12631 | 603158 |
HP:0000572 | HP:0000572 | Visual loss | 0 | USP8 CL E G H | 9101 | 96253 | | | | ORPHA | 0 | | 115 | 12631 | 603158 |
HP:0000572 | HP:0000572 | Visual loss | 0 | VHL CL E G H | 7428 | 892 | Billet Bear syndrome | | | ORPHA | 0 | | 1357 | 12687 | 608537 |
HP:0000572 | HP:0000572 | Visual loss | 0 | VHL CL E G H | 7428 | 892 | Billet Bear syndrome | | | ORPHA | 0 | | 1524 | 12687 | 608537 |
HP:0000572 | HP:0000529 | Progressive visual loss | 1 | ADAMTS10 CL E G H | 81794 | 3449 | Mehes syndrome | | | ORPHA | 0 | | 241 | 13201 | 608990 |
HP:0000572 | |