Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 826 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 826 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | | | | 826 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ABCA4 CL E G H | 24 | 34 | ORPHA:827 | Stargardt disease | | | | 826 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | | | | 120 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ADAM9 CL E G H | 8754 | 216 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 41 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AGBL5 CL E G H | 60509 | 26147 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | | | | 2 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 175 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AHR CL E G H | 196 | 348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AIPL1 CL E G H | 23746 | 359 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 114 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AIPL1 CL E G H | 23746 | 359 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 114 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ALDH1A3 CL E G H | 220 | 409 | ORPHA:35612 | Nanophthalmos | HP:0040283 - Occasional | | | 10 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | | | | 44 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | APC CL E G H | 324 | 583 | ORPHA:873 | Desmoid tumor | HP:0040282 - Frequent | | | 3179 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ARHGEF18 CL E G H | 23370 | 17090 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 6 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ARL2BP CL E G H | 23568 | 17146 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618173 | RETINITIS PIGMENTOSA 83; RP83 | | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | | | | 29 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ARL6 CL E G H | 84100 | 13210 | OMIM:600151 | Bardet-Biedl syndrome 3 | | | | 29 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ARL6 CL E G H | 84100 | 13210 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 29 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | | | | 10 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ATF6 CL E G H | 22926 | 791 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 10 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:551500 | Neuropathy, ataxia, and retinitis pigmentosa | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ATP8 CL E G H | 4509 | 7415 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ATXN7 CL E G H | 6314 | 10560 | OMIM:164500 | Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II | | | | 8 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | | | | 114 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS1 CL E G H | 582 | 966 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 114 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | | | | 118 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | | | | 71 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | | | | 97 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS2 CL E G H | 583 | 967 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 97 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS2 CL E G H | 583 | 967 | OMIM:616562 | Retinitis pigmentosa 74 | | | | 97 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | | | | 87 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | | | | 25 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | | | | 66 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | | | | 119 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:35612 | Nanophthalmos | HP:0040283 - Occasional | | | 182 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 182 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | | | | 182 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CA4 CL E G H | 762 | 1375 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 23 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 94 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 58 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 58 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 129 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | | | | 129 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040283 - Occasional | | | 242 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 147 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CDHR1 CL E G H | 92211 | 14550 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 147 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CEP164 CL E G H | 22897 | 29182 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | | | | 342 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 342 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CERKL CL E G H | 375298 | 21699 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 71 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CFAP410 CL E G H | 755 | 1260 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 86 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 57 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CHM CL E G H | 1121 | 1940 | ORPHA:180 | Choroideremia | HP:0040281 - Very frequent | | | 47 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CLCC1 CL E G H | 23155 | 29675 | OMIM:609913 | RETINITIS PIGMENTOSA 32; RP32 | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CLDN19 CL E G H | 149461 | 2040 | ORPHA:2196 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement | HP:0040281 - Very frequent | | | 42 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CLRN1 CL E G H | 7401 | 12605 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 60 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CLRN1 CL E G H | 7401 | 12605 | OMIM:614180 | Retinitis pigmentosa 61 | | | | 60 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNGA1 CL E G H | 1259 | 2148 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 44 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | | | | 82 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 82 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNGB1 CL E G H | 1258 | 2151 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 164 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNGB1 CL E G H | 1258 | 2151 | OMIM:613767 | Retinitis pigmentosa 45 | | | | 164 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | | | | 194 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:1871 | Progressive cone dystrophy | HP:0040281 - Very frequent | | | 194 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:827 | Stargardt disease | | | | 194 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CNNM4 CL E G H | 26504 | 105 | ORPHA:1873 | Jalili syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 104 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 6 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040282 - Frequent | | | 115 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 156 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | | | | 156 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:35612 | Nanophthalmos | HP:0040283 - Occasional | | | 156 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | | | | 156 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 156 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | | | | 156 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 158 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 158 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 158 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:873 | Desmoid tumor | HP:0040282 - Frequent | | | 88 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | | | | 178 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | | | | 178 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | | | | 126 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | DHX38 CL E G H | 9785 | 17211 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | DRAM2 CL E G H | 128338 | 28769 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 9 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 304 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | DYNC2LI1 CL E G H | 51626 | 24595 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 33 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | EDN3 CL E G H | 1908 | 3178 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040283 - Occasional | | | 67 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | EDNRB CL E G H | 1910 | 3180 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040282 - Frequent | | | 54 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ELMO2 CL E G H | 63916 | 17233 | ORPHA:3019 | Ramon syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:827 | Stargardt disease | | | | 62 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040283 - Occasional | | | 20 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040283 - Occasional | | | 106 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | | | | 54 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040283 - Occasional | | | 199 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | EYS CL E G H | 346007 | 21555 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 209 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | FAM161A CL E G H | 84140 | 25808 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 56 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | FAM161A CL E G H | 84140 | 25808 | OMIM:606068 | RETINITIS PIGMENTOSA 28; RP28 | | | | 56 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | FLCN CL E G H | 201163 | 27310 | ORPHA:122 | Birt-Hogg-Dubé syndrome | HP:0040282 - Frequent | | | 332 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:272460 | Spondylocarpotarsal synostosis syndrome | | | | 233 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | | | | 111 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | FSCN2 CL E G H | 25794 | 3960 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 26 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | FSCN2 CL E G H | 25794 | 3960 | OMIM:607921 | RETINITIS PIGMENTOSA 30; RP30 | | | | 26 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 64 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 39 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | | | | 19 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:1871 | Progressive cone dystrophy | HP:0040281 - Very frequent | | | 19 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 5 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 124 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 4 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 63 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | | | | 39 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 24 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 24 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:1871 | Progressive cone dystrophy | HP:0040281 - Very frequent | | | 24 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GUCA1B CL E G H | 2979 | 4679 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 36 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 124 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:215500 | Choroidal dystrophy, central areolar 1 | | | | 124 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 124 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | | | | 124 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 124 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | | | | 124 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | | | | 41 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609016 | Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency | | | | 99 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 11 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HGSNAT CL E G H | 138050 | 26527 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 86 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | | | | 11 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | HKDC1 CL E G H | 80201 | 23302 | OMIM:619614 | RETINITIS PIGMENTOSA 92; RP92 | | | | 2 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IDH3A CL E G H | 3419 | 5384 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IDH3B CL E G H | 3420 | 5385 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IDH3B CL E G H | 3420 | 5385 | OMIM:612572 | RETINITIS PIGMENTOSA 46; RP46 | | | | 30 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 148 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 148 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 148 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | | | | 148 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | | | | 48 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 48 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT172 CL E G H | 26160 | 30391 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | | | | 4 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IFT88 CL E G H | 8100 | 20606 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 52 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 52 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | | | | 52 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 120 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | INVS CL E G H | 27130 | 17870 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | KCNJ13 CL E G H | 3769 | 6259 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 42 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | KIAA1549 CL E G H | 57670 | 22219 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040282 - Frequent | | | 46 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | KIZ CL E G H | 55857 | 15865 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | KIZ CL E G H | 55857 | 15865 | OMIM:615780 | Retinitis pigmentosa 69 | . | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | KLHL7 CL E G H | 55975 | 15646 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 42 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 21 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 62 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 62 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 54 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | | | | 4 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MAK CL E G H | 4117 | 6816 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 53 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | | | | 53 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 124 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | HP:0040283 - Occasional | | | 78 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MERTK CL E G H | 10461 | 7027 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 75 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MFRP CL E G H | 83552 | 18121 | OMIM:611040 | Microphthalmia, isolated 5 | | | | 26 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MFRP CL E G H | 83552 | 18121 | ORPHA:35612 | Nanophthalmos | HP:0040283 - Occasional | | | 26 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | | | | 120 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | | | | 69 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MKKS CL E G H | 8195 | 7108 | OMIM:605231 | Bardet-Biedl syndrome 6 | | | | 69 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | | | | 127 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:615990 | BARDET-BIEDL SYNDROME 13; BBS13 | | | | 127 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | 101 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040283 - Occasional | | | 8 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:619090 | DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN | | | | 8 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 29 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | | | | 2 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 91 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 7 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 19 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 4 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 26 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 34 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 39 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 81 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 65 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 22 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 38 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 42 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 74 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 27 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NEK2 CL E G H | 4751 | 7745 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NMNAT1 CL E G H | 64802 | 17877 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 15 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NMNAT1 CL E G H | 64802 | 17877 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 15 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | | | | 85 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NPHP4 CL E G H | 261734 | 19104 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 220 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:268100 | Enhanced S-cone syndrome | | | | 58 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NR2E3 CL E G H | 10002 | 7974 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 58 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:611131 | Retinitis pigmentosa 37 | | | | 58 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NRL CL E G H | 4901 | 8002 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 30 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 42 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:79432 | Oculocutaneous albinism type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 201 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | OPN1LW CL E G H | 5956 | 9936 | ORPHA:16 | Blue cone monochromatism | HP:0040283 - Occasional | | | 7 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | OPN1LW CL E G H | 5956 | 9936 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 7 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | OPN1MW CL E G H | 2652 | 4206 | ORPHA:16 | Blue cone monochromatism | HP:0040283 - Occasional | | | 5 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | OPN1MW CL E G H | 2652 | 4206 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 5 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:35612 | Nanophthalmos | HP:0040283 - Occasional | | | 41 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216866 | Classic pantothenate kinase-associated neurodegeneration | | | | 55 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | | | | 55 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:35737 | Morning glory disc anomaly | HP:0040281 - Very frequent | | | 194 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PCARE CL E G H | 388939 | 34383 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PCARE CL E G H | 388939 | 34383 | OMIM:613428 | Retinitis pigmentosa 54 | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 11 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:85167 | Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDE6A CL E G H | 5145 | 8785 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 116 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 126 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 126 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDE6B CL E G H | 5158 | 8786 | OMIM:613801 | Retinitis pigmentosa 40 | | | | 126 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | | | | 80 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDE6C CL E G H | 5146 | 8787 | ORPHA:1871 | Progressive cone dystrophy | HP:0040281 - Very frequent | | | 80 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDE6G CL E G H | 5148 | 8789 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 18 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDE6G CL E G H | 5148 | 8789 | OMIM:613582 | Retinitis pigmentosa 57 | | | | 18 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | | | | 14 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 88 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040282 - Frequent | | | 66 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 6 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 169 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 75 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 66 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 46 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 59 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 82 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 106 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 47 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 99 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040282 - Frequent | | | 98 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 72 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 45 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:108145 | Arthrogryposis, distal, type 5 | . | | | 77 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PISD CL E G H | 23761 | 8999 | OMIM:618889 | LIBERFARB SYNDROME; LIBF | | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PITPNM3 CL E G H | 83394 | 21043 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 135 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PITPNM3 CL E G H | 83394 | 21043 | OMIM:600977 | Cone-Rod dystrophy 5 | | | | 135 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040281 - Very frequent | | | 103 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:245800 | Laurence-Moon syndrome | | | | 103 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | POC1B CL E G H | 282809 | 30836 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 180 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | | | | 221 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRCD CL E G H | 768206 | 32528 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 39 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRCD CL E G H | 768206 | 32528 | OMIM:610599 | Retinitis pigmentosa 36 | | | | 39 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 110 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | | | | 110 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 110 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PROM1 CL E G H | 8842 | 9454 | ORPHA:827 | Stargardt disease | | | | 110 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPF3 CL E G H | 9129 | 17348 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPF31 CL E G H | 26121 | 15446 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 70 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPF4 CL E G H | 9128 | 17349 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 2 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPF6 CL E G H | 24148 | 15860 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 51 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPF8 CL E G H | 10594 | 17340 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 94 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | | | | 94 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 159 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 159 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 159 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 159 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | | | | 159 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:827 | Stargardt disease | | | | 159 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PRSS56 CL E G H | 646960 | 39433 | ORPHA:35612 | Nanophthalmos | HP:0040283 - Occasional | | | 11 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RAB28 CL E G H | 9364 | 9768 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 6 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RAX CL E G H | 30062 | 18662 | ORPHA:35612 | Nanophthalmos | HP:0040283 - Occasional | | | 43 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RAX2 CL E G H | 84839 | 18286 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 52 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RBP3 CL E G H | 5949 | 9921 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 108 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | | | | 108 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RD3 CL E G H | 343035 | 19689 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 95 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 45 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RDH12 CL E G H | 145226 | 19977 | OMIM:612712 | Leber congenital amaurosis 13 | | | | 45 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | | | | 32 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | REEP6 CL E G H | 92840 | 30078 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 5 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RGR CL E G H | 5995 | 9990 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 28 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 107 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RHO CL E G H | 6010 | 10012 | OMIM:610445 | Night blindness, congenital stationary, autosomal dominant 1 | | | | 107 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 107 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | | | | 107 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | | | | 107 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RIMS1 CL E G H | 22999 | 17282 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 102 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | | | | 47 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 47 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | | | | 47 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040281 - Very frequent | | | 37 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RNF216 CL E G H | 54476 | 21698 | ORPHA:1173 | Cerebellar ataxia-hypogonadism syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:1824 | Lowry-Wood syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ROM1 CL E G H | 6094 | 10254 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 38 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 38 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RP1 CL E G H | 6101 | 10263 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 111 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | | | | 111 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RP1L1 CL E G H | 94137 | 15946 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 284 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RP1L1 CL E G H | 94137 | 15946 | OMIM:618826 | RETINITIS PIGMENTOSA 88; RP88 | | | | 284 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RP2 CL E G H | 6102 | 10274 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 45 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RP9 CL E G H | 6100 | 10288 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RP9 CL E G H | 6100 | 10288 | OMIM:180104 | Retinitis pigmentosa 9 | | | | 14 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 129 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:204100 | Leber congenital amaurosis, type II | | | | 129 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 129 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:618697 | RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 | | | | 129 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | | | | 200 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 200 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 200 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 109 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 109 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | | | | 125 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 32 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 32 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SAG CL E G H | 6295 | 10521 | OMIM:613758 | RETINITIS PIGMENTOSA 47; RP47 | | | | 32 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SCAPER CL E G H | 49855 | 13081 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 304 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 304 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | | | | 304 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 16 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 237 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | | | | 129 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 48 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | | | | 48 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SEMA4A CL E G H | 64218 | 10729 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SIX6 CL E G H | 4990 | 10892 | ORPHA:35612 | Nanophthalmos | HP:0040283 - Occasional | | | 20 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SLC12A6 CL E G H | 9990 | 10914 | ORPHA:1496 | Corpus callosum agenesis-neuronopathy syndrome | HP:0040283 - Occasional | | | 163 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 110 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 66 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SLC45A2 CL E G H | 51151 | 16472 | ORPHA:79435 | Oculocutaneous albinism type 4 | HP:0040281 - Very frequent | | | 42 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SLC7A14 CL E G H | 57709 | 29326 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 4 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SNRNP200 CL E G H | 23020 | 30859 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 83 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SNRNP200 CL E G H | 23020 | 30859 | OMIM:610359 | Retinitis pigmentosa 33 | | | | 83 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:897 | Waardenburg-Shah syndrome | HP:0040283 - Occasional | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:35612 | Nanophthalmos | HP:0040283 - Occasional | | | 33 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 48 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 48 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SUMF1 CL E G H | 285362 | 20376 | ORPHA:585 | Multiple sulfatase deficiency | HP:0040282 - Frequent | | | 80 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 73 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | 73 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | | | | 23 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TAF2 CL E G H | 6873 | 11536 | ORPHA:397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | | | | 95 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TLCD3B CL E G H | 83723 | 25295 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TMEM98 CL E G H | 26022 | 24529 | ORPHA:35612 | Nanophthalmos | HP:0040283 - Occasional | | | 3 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:2801 | Juvenile Paget disease | HP:0040282 - Frequent | | | 72 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:2801 | Juvenile Paget disease | HP:0040282 - Frequent | | | 44 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRAF3IP1 CL E G H | 26146 | 17861 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | | | | 108 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | HP:0040284 - Very rare | | | 104 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TTC21B CL E G H | 79809 | 25660 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | | | | 41 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TTC8 CL E G H | 123016 | 20087 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 41 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | | | | 41 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TTLL5 CL E G H | 23093 | 19963 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 9 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TTPA CL E G H | 7274 | 12404 | ORPHA:96 | Ataxia with vitamin E deficiency | HP:0040283 - Occasional | | | 62 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TUB CL E G H | 7275 | 12406 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TUBB4B CL E G H | 10383 | 20771 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TUBGCP4 CL E G H | 27229 | 16691 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TUBGCP6 CL E G H | 85378 | 18127 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TUBGCP6 CL E G H | 85378 | 18127 | OMIM:251270 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | . | | | 61 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | 66 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | | | | 66 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 66 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | TYR CL E G H | 7299 | 12442 | ORPHA:79434 | Oculocutaneous albinism type 1B | HP:0040281 - Very frequent | | | 146 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | UNC119 CL E G H | 9094 | 12565 | ORPHA:1872 | Cone rod dystrophy | HP:0040281 - Very frequent | | | 30 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 777 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | USH2A CL E G H | 7399 | 12601 | OMIM:613809 | Retinitis pigmentosa 39 | | | | 777 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | USP45 CL E G H | 85015 | 20080 | ORPHA:65 | Leber congenital amaurosis | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040283 - Occasional | | | 546 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | | | | 60 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:474 | Jeune syndrome | HP:0040283 - Occasional | | | 95 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | WDR19 CL E G H | 57728 | 18340 | ORPHA:3156 | Senior-Loken syndrome | HP:0040281 - Very frequent | | | 95 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | | | | 389 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | WRN CL E G H | 7486 | 12791 | ORPHA:902 | Werner syndrome | HP:0040282 - Frequent | | | 310 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | | | | 189 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 14 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | | | | 14 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ZNF513 CL E G H | 130557 | 26498 | ORPHA:791 | Retinitis pigmentosa | HP:0040281 - Very frequent | | | 27 | | |
HP:0007703 | HP:0007703 | Abnormality of retinal pigmentation | 0 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | | | | 27 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | | | | 826 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | ABCA4 CL E G H | 24 | 34 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 826 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ACOX1 CL E G H | 51 | 119 | OMIM:264470 | Peroxisomal acyl-coa oxidase deficiency | . | | | 120 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | | | | 2 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | . | | | 175 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | AMACR CL E G H | 23600 | 451 | OMIM:614307 | Alpha-methylacyl-CoA racemase deficiency | HP:0040282 - Frequent | | | 44 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | AMACR CL E G H | 23600 | 451 | ORPHA:79095 | Congenital bile acid synthesis defect type 4 | | | | 44 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ARL13B CL E G H | 200894 | 25419 | OMIM:612291 | JOUBERT SYNDROME 8; JBTS8 | | | | 62 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618173 | RETINITIS PIGMENTOSA 83; RP83 | | | | 1 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ARL6 CL E G H | 84100 | 13210 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ARL6 CL E G H | 84100 | 13210 | OMIM:600151 | Bardet-Biedl syndrome 3 | | | | 29 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | ATF6 CL E G H | 22926 | 791 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 10 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | ATP6 CL E G H | 4508 | 7414 | OMIM:551500 | Neuropathy, ataxia, and retinitis pigmentosa | . | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ATXN7 CL E G H | 6314 | 10560 | OMIM:164500 | Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II | . | | | 8 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBIP1 CL E G H | 92482 | 28093 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS1 CL E G H | 582 | 966 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 114 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS10 CL E G H | 79738 | 26291 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS12 CL E G H | 166379 | 26648 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 71 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS2 CL E G H | 583 | 967 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 97 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS2 CL E G H | 583 | 967 | OMIM:616562 | Retinitis pigmentosa 74 | . | | | 97 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS4 CL E G H | 585 | 969 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS5 CL E G H | 129880 | 970 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS7 CL E G H | 55212 | 18758 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 66 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS9 CL E G H | 27241 | 30000 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | . | | | 182 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | | | | 129 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | . | | | 11 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CEP19 CL E G H | 84984 | 28209 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 342 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CFAP418 CL E G H | 157657 | 27232 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CLCC1 CL E G H | 23155 | 29675 | OMIM:609913 | RETINITIS PIGMENTOSA 32; RP32 | | | | | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619517 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA | | | | 2 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CLRN1 CL E G H | 7401 | 12605 | OMIM:614180 | Retinitis pigmentosa 61 | | | | 60 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CNGA3 CL E G H | 1261 | 2150 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 82 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CNGB1 CL E G H | 1258 | 2151 | OMIM:613767 | Retinitis pigmentosa 45 | | | | 164 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 194 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CNGB3 CL E G H | 54714 | 2153 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 194 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | COA8 CL E G H | 84334 | 20492 | ORPHA:436271 | Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | COX15 CL E G H | 1355 | 2263 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 104 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | COX7B CL E G H | 1349 | 2291 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 6 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | COX8A CL E G H | 1351 | 2294 | OMIM:619059 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15 | | | | 1 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | | | | 156 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | | | | 156 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | | | | 156 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | | | | 178 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | HP:0040282 - Frequent | | | 178 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040283 - Occasional | | | 126 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040283 - Occasional | | | 126 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | DHX16 CL E G H | 8449 | 2739 | OMIM:618733 | NEUROMUSCULAR OCULOAUDITORY SYNDROME; NMOAS | | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ECHS1 CL E G H | 1892 | 3151 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 33 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 62 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 158 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 199 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 55 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | FAM161A CL E G H | 84140 | 25808 | OMIM:606068 | RETINITIS PIGMENTOSA 28; RP28 | | | | 56 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 61 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | FSCN2 CL E G H | 25794 | 3960 | OMIM:607921 | RETINITIS PIGMENTOSA 30; RP30 | | | | 26 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | GNAT2 CL E G H | 2780 | 4394 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 19 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | GSS CL E G H | 2937 | 4624 | OMIM:266130 | Glutathione synthetase deficiency | . | | | 39 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 124 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | GUCY2D CL E G H | 3000 | 4689 | OMIM:215500 | Choroidal dystrophy, central areolar 1 | | | | 124 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | | | | 124 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | GUCY2D CL E G H | 3000 | 4689 | OMIM:204000 | Leber congenital amaurosis, type I | . | | | 124 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | HADH CL E G H | 3033 | 4799 | ORPHA:71212 | Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 41 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | HADHA CL E G H | 3030 | 4801 | OMIM:609016 | Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency | . | | | 99 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | HADHA CL E G H | 3030 | 4801 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 99 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | HADHB CL E G H | 3032 | 4803 | OMIM:609015 | Mitochondrial trifunctional protein deficiency | | | | 60 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | HCCS CL E G H | 3052 | 4837 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 11 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | | | | 11 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | HKDC1 CL E G H | 80201 | 23302 | OMIM:619614 | RETINITIS PIGMENTOSA 92; RP92 | | | | 2 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | IDH3B CL E G H | 3420 | 5385 | OMIM:612572 | RETINITIS PIGMENTOSA 46; RP46 | | | | 30 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | | | | 148 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | IFT172 CL E G H | 26160 | 30391 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | IFT27 CL E G H | 11020 | 18626 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | IFT52 CL E G H | 51098 | 15901 | OMIM:617102 | Short-Rib thoracic dysplasia 16 with or without polydactyly | | | | 4 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | IFT74 CL E G H | 80173 | 21424 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | | | | 52 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ISCA1 CL E G H | 81689 | 28660 | OMIM:617613 | Multiple mitochondrial dysfunctions syndrome 5 | HP:0040284 - Very rare | | | 1 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | KIZ CL E G H | 55857 | 15865 | OMIM:615780 | Retinitis pigmentosa 69 | . | | | 3 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 70 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | LIPT1 CL E G H | 51601 | 29569 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 21 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 62 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | LZTFL1 CL E G H | 54585 | 6741 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | | | | 53 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MECR CL E G H | 51102 | 19691 | OMIM:617282 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | | | | 6 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MED12 CL E G H | 9968 | 11957 | OMIM:301068 | HARDIKAR SYNDROME; HDKR | | | | 228 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MFRP CL E G H | 83552 | 18121 | OMIM:611040 | Microphthalmia, isolated 5 | | | | 26 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | | | | 120 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MKKS CL E G H | 8195 | 7108 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 69 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MKKS CL E G H | 8195 | 7108 | OMIM:605231 | Bardet-Biedl syndrome 6 | | | | 69 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:615990 | BARDET-BIEDL SYNDROME 13; BBS13 | | | | 127 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040282 - Frequent | | | 101 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MORC2 CL E G H | 22880 | 23573 | OMIM:619090 | DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN | | | | 8 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MSTO1 CL E G H | 55154 | 29678 | ORPHA:502423 | Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome | HP:0040284 - Very rare | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MSTO1 CL E G H | 55154 | 29678 | OMIM:617675 | Myopathy, mitochondrial, and ataxia | . | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | MTFMT CL E G H | 123263 | 29666 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 29 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFA10 CL E G H | 4705 | 7684 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 91 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFA12 CL E G H | 55967 | 23987 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 7 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFA13 CL E G H | 51079 | 17194 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 3 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFA2 CL E G H | 4695 | 7685 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 19 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFA4 CL E G H | 4697 | 7687 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 4 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFA9 CL E G H | 4704 | 7693 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 26 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 34 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFAF6 CL E G H | 137682 | 28625 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 39 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFB11 CL E G H | 54539 | 20372 | OMIM:309801 | Microphthalmia, syndromic 7 | . | | | 3 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 81 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 65 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 22 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 38 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 42 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 74 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 27 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040284 - Very rare | | | 32 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NOTCH2NLC CL E G H | 100996717 | 53924 | OMIM:619473 | OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3 | | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 85 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NR2E3 CL E G H | 10002 | 7974 | OMIM:268100 | Enhanced S-cone syndrome | . | | | 58 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | NR2E3 CL E G H | 10002 | 7974 | OMIM:611131 | Retinitis pigmentosa 37 | . | | | 58 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216866 | Classic pantothenate kinase-associated neurodegeneration | HP:0040282 - Frequent | | | 55 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PANK2 CL E G H | 80025 | 15894 | OMIM:234200 | Neurodegeneration with brain iron accumulation 1 | . | | | 55 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PCARE CL E G H | 388939 | 34383 | OMIM:613428 | Retinitis pigmentosa 54 | | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PDE6B CL E G H | 5158 | 8786 | OMIM:613801 | Retinitis pigmentosa 40 | | | | 126 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | PDE6C CL E G H | 5146 | 8787 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 80 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PDE6G CL E G H | 5148 | 8789 | OMIM:613582 | Retinitis pigmentosa 57 | | | | 18 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | PDE6H CL E G H | 5149 | 8790 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 14 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 88 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PET100 CL E G H | 100131801 | 40038 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 6 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PISD CL E G H | 23761 | 8999 | OMIM:618889 | LIBERFARB SYNDROME; LIBF | | | | 1 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | PISD CL E G H | 23761 | 8999 | OMIM:618889 | LIBERFARB SYNDROME; LIBF | | | | 1 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | PITPNM3 CL E G H | 83394 | 21043 | OMIM:600977 | Cone-Rod dystrophy 5 | | | | 135 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:245800 | Laurence-Moon syndrome | . | | | 103 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | | | | 3 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | POLG CL E G H | 5428 | 9179 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 464 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | HP:0040283 - Occasional | | | 221 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PRCD CL E G H | 768206 | 32528 | OMIM:610599 | Retinitis pigmentosa 36 | | | | 39 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | | | | 110 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | PROM1 CL E G H | 8842 | 9454 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 110 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | | | | 94 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 159 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 159 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 159 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:52427 | Retinitis punctata albescens | HP:0040284 - Very rare | | | 159 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:827 | Stargardt disease | HP:0040281 - Very frequent | | | 159 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | | | | 108 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RDH12 CL E G H | 145226 | 19977 | OMIM:612712 | Leber congenital amaurosis 13 | | | | 45 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 32 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RDH5 CL E G H | 5959 | 9940 | ORPHA:52427 | Retinitis punctata albescens | HP:0040284 - Very rare | | | 32 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RHO CL E G H | 6010 | 10012 | OMIM:610445 | Night blindness, congenital stationary, autosomal dominant 1 | | | | 107 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | . | | | 107 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 107 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:52427 | Retinitis punctata albescens | HP:0040284 - Very rare | | | 107 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040282 - Frequent | | | 47 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040282 - Frequent | | | 47 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040284 - Very rare | | | 47 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:52427 | Retinitis punctata albescens | HP:0040282 - Frequent | | | 47 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RNASEH1 CL E G H | 246243 | 18466 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:226960 | EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS | | | | 15 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 38 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | | | | 111 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RP1L1 CL E G H | 94137 | 15946 | OMIM:618826 | RETINITIS PIGMENTOSA 88; RP88 | | | | 284 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | . | | | 45 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RP9 CL E G H | 6100 | 10288 | OMIM:180104 | Retinitis pigmentosa 9 | | | | 14 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RPE65 CL E G H | 6121 | 10294 | OMIM:204100 | Leber congenital amaurosis, type II | . | | | 129 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RPE65 CL E G H | 6121 | 10294 | OMIM:618697 | RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 | | | | 129 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 129 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:49382 | Achromatopsia | HP:0040283 - Occasional | | | 200 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | RPGR CL E G H | 6103 | 10295 | OMIM:304020 | Cone-rod dystrophy, X-linked, 1 | | | | 200 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:329336 | Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SAG CL E G H | 6295 | 10521 | OMIM:613758 | RETINITIS PIGMENTOSA 47; RP47 | | | | 32 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SCAPER CL E G H | 49855 | 13081 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SDCCAG8 CL E G H | 10806 | 10671 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 304 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SDHA CL E G H | 6389 | 10680 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 304 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SDHA CL E G H | 6389 | 10680 | OMIM:252011 | Mitochondrial complex II deficiency | . | | | 304 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SDHAF1 CL E G H | 644096 | 33867 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 16 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SDHB CL E G H | 6390 | 10681 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 237 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SDHD CL E G H | 6392 | 10683 | ORPHA:3208 | Isolated succinate-CoQ reductase deficiency | HP:0040284 - Very rare | | | 129 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | HP:0040280 - Obligate | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | | | | 48 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SLC19A3 CL E G H | 80704 | 16266 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 110 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | SLC6A6 CL E G H | 6533 | 11052 | OMIM:145350 | Hypotaurinemic retinal degeneration and cardiomyopathy | | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SNRNP200 CL E G H | 23020 | 30859 | OMIM:610359 | Retinitis pigmentosa 33 | | | | 83 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 48 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SURF1 CL E G H | 6834 | 11474 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 73 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | SURF1 CL E G H | 6834 | 11474 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | 73 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TACO1 CL E G H | 51204 | 24316 | ORPHA:255241 | Leigh syndrome with leukodystrophy | HP:0040282 - Frequent | | | 23 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040283 - Occasional | | | 95 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRIM32 CL E G H | 22954 | 16380 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 108 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNK CL E G H | 4566 | 7489 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNN CL E G H | 4570 | 7493 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNS1 CL E G H | 4574 | 7497 | OMIM:220110 | Mitochondrial complex IV deficiency | . | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNV CL E G H | 4577 | 7500 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:255210 | Mitochondrial DNA-associated Leigh syndrome | HP:0040282 - Frequent | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TTC8 CL E G H | 123016 | 20087 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | | | | 41 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | TUBB4B CL E G H | 10383 | 20771 | OMIM:617879 | Leber congenital amaurosis with early-onset deafness | | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:607459 | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | | | | 113 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | USH2A CL E G H | 7399 | 12601 | OMIM:613809 | Retinitis pigmentosa 39 | | | | 777 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0007703 | HP:0007814 | Retinal pigment epithelial mottling | 1 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | WDPCP CL E G H | 51057 | 28027 | ORPHA:110 | Bardet-Biedl syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | . | | | 389 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ZFYVE26 CL E G H | 23503 | 20761 | ORPHA:100996 | Autosomal recessive spastic paraplegia type 15 | HP:0040282 - Frequent | | | 189 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | | | | 14 | | |
HP:0007703 | HP:0000580 | Pigmentary retinopathy | 1 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | | | | 27 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | ABCA4 CL E G H | 24 | 34 | OMIM:601718 | Retinitis pigmentosa 19 | . | | | 826 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | AGBL5 CL E G H | 60509 | 26147 | OMIM:617023 | Retinitis pigmentosa 75 | | | | 2 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | ARL3 CL E G H | 403 | 694 | OMIM:618173 | RETINITIS PIGMENTOSA 83; RP83 | | | | 1 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | ARL6 CL E G H | 84100 | 13210 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 29 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | ARSG CL E G H | 22901 | 24102 | OMIM:618144 | USHER SYNDROME, TYPE IV; USH4 | | | | | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | BBS1 CL E G H | 582 | 966 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 114 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | BBS9 CL E G H | 27241 | 30000 | OMIM:615986 | BARDET-BIEDL SYNDROME 9; BBS9 | | | | 119 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CCDC28B CL E G H | 79140 | 28163 | OMIM:209900 | Bardet-Biedl syndrome 1 | | | | 4 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CFAP418 CL E G H | 157657 | 27232 | OMIM:614500 | Cone-Rod dystrophy 16 | | | | | | |
HP:0007703 | HP:0007793 | Granular macular appearance | 2 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 86 | | |
HP:0007703 | HP:0007793 | Granular macular appearance | 2 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 57 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007703 | HP:0030505 | Nummular pigmentation of the fundus | 2 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007703 | HP:0007793 | Granular macular appearance | 2 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | | | | 47 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CLCC1 CL E G H | 23155 | 29675 | OMIM:609913 | RETINITIS PIGMENTOSA 32; RP32 | | | | | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CLRN1 CL E G H | 7401 | 12605 | OMIM:614180 | Retinitis pigmentosa 61 | | | | 60 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CNGA1 CL E G H | 1259 | 2148 | OMIM:613756 | RETINITIS PIGMENTOSA 49; RP49 | | | | 44 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CNGB1 CL E G H | 1258 | 2151 | OMIM:613767 | Retinitis pigmentosa 45 | . | | | 164 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CNNM4 CL E G H | 26504 | 105 | OMIM:217080 | Jalili syndrome | | | | 61 | | |
HP:0007703 | HP:0030505 | Nummular pigmentation of the fundus | 2 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | | | | 156 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | . | | | 156 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CRB1 CL E G H | 23418 | 2343 | OMIM:600105 | Retinitis pigmentosa 12 | | | | 156 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0007703 | HP:0007793 | Granular macular appearance | 2 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 54 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | FAM161A CL E G H | 84140 | 25808 | OMIM:606068 | RETINITIS PIGMENTOSA 28; RP28 | | | | 56 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | FLVCR1 CL E G H | 28982 | 24682 | OMIM:609033 | Ataxia, posterior column, with retinitis pigmentosa | | | | 111 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | FLVCR1 CL E G H | 28982 | 24682 | ORPHA:88628 | Posterior column ataxia-retinitis pigmentosa syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | FSCN2 CL E G H | 25794 | 3960 | OMIM:607921 | RETINITIS PIGMENTOSA 30; RP30 | | | | 26 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | | | | 124 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | HK1 CL E G H | 3098 | 4922 | OMIM:617460 | Retinitis pigmentosa 79 | | | | 11 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | IDH3A CL E G H | 3419 | 5384 | OMIM:619007 | RETINITIS PIGMENTOSA 90; RP90 | | | | | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | IFT140 CL E G H | 9742 | 29077 | OMIM:617781 | Retinitis pigmentosa 80 | | | | 148 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | IMPDH1 CL E G H | 3614 | 6052 | OMIM:180105 | Retinitis pigmentosa 10 | . | | | 52 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | IMPG2 CL E G H | 50939 | 18362 | OMIM:613581 | RETINITIS PIGMENTOSA 56; RP56 | | | | 120 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0007703 | HP:0030505 | Nummular pigmentation of the fundus | 2 | KIAA1549 CL E G H | 57670 | 22219 | OMIM:618613 | RETINITIS PIGMENTOSA 86; RP86 | | | | | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 70 | | |
HP:0007703 | HP:0007793 | Granular macular appearance | 2 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 62 | | |
HP:0007703 | HP:0007793 | Granular macular appearance | 2 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | LZTFL1 CL E G H | 54585 | 6741 | OMIM:615994 | BARDET-BIEDL SYNDROME 17; BBS17 | | | | 4 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | MAK CL E G H | 4117 | 6816 | OMIM:614181 | Retinitis pigmentosa 62 | | | | 53 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | MFRP CL E G H | 83552 | 18121 | OMIM:611040 | Microphthalmia, isolated 5 | . | | | 26 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | MKS1 CL E G H | 54903 | 7121 | OMIM:615990 | BARDET-BIEDL SYNDROME 13; BBS13 | | | | 127 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:608553 | Leber congenital amaurosis 9 | | | | 15 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | PCARE CL E G H | 388939 | 34383 | OMIM:613428 | Retinitis pigmentosa 54 | . | | | | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | PDE6A CL E G H | 5145 | 8785 | OMIM:613810 | RETINITIS PIGMENTOSA 43; RP43 | | | | 116 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | PDE6B CL E G H | 5158 | 8786 | OMIM:613801 | Retinitis pigmentosa 40 | | | | 126 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | PDE6G CL E G H | 5148 | 8789 | OMIM:613582 | Retinitis pigmentosa 57 | | | | 18 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | PISD CL E G H | 23761 | 8999 | OMIM:618889 | LIBERFARB SYNDROME; LIBF | | | | 1 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | POC1B CL E G H | 282809 | 30836 | OMIM:615973 | Cone-Rod dystrophy 20 | | | | 3 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:617123 | RETINITIS PIGMENTOSA 76; RP76 | | | | 180 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | PRCD CL E G H | 768206 | 32528 | OMIM:610599 | Retinitis pigmentosa 36 | | | | 39 | | |
HP:0007703 | HP:0007793 | Granular macular appearance | 2 | PROM1 CL E G H | 8842 | 9454 | OMIM:608051 | Macular dystrophy, retinal, 2 | . | | | 110 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | PROM1 CL E G H | 8842 | 9454 | OMIM:612095 | RETINITIS PIGMENTOSA 41; RP41 | | | | 110 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | PRPF31 CL E G H | 26121 | 15446 | OMIM:600138 | Retinitis pigmentosa 11 | | | | 70 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | PRPF8 CL E G H | 10594 | 17340 | OMIM:600059 | Retinitis pigmentosa 13 | | | | 94 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RAX2 CL E G H | 84839 | 18286 | OMIM:620102 | | | | | 52 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RBP3 CL E G H | 5949 | 9921 | OMIM:615233 | Retinitis pigmentosa 66 | | | | 108 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RDH12 CL E G H | 145226 | 19977 | OMIM:612712 | Leber congenital amaurosis 13 | | | | 45 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RHO CL E G H | 6010 | 10012 | OMIM:610445 | Night blindness, congenital stationary, autosomal dominant 1 | . | | | 107 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RHO CL E G H | 6010 | 10012 | OMIM:613731 | Retinitis pigmentosa 4 | | | | 107 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RP1 CL E G H | 6101 | 10263 | OMIM:180100 | Retinitis pigmentosa 1 | . | | | 111 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RP1L1 CL E G H | 94137 | 15946 | OMIM:618826 | RETINITIS PIGMENTOSA 88; RP88 | | | | 284 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RP9 CL E G H | 6100 | 10288 | OMIM:180104 | Retinitis pigmentosa 9 | . | | | 14 | | |
HP:0007703 | HP:0030505 | Nummular pigmentation of the fundus | 2 | RPE65 CL E G H | 6121 | 10294 | OMIM:618697 | RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 | | | | 129 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RPE65 CL E G H | 6121 | 10294 | OMIM:618697 | RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 | | | | 129 | | |
HP:0007703 | HP:0007793 | Granular macular appearance | 2 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 129 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RPGR CL E G H | 6103 | 10295 | OMIM:300029 | Retinitis pigmentosa 3 | | | | 200 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | RRM2B CL E G H | 50484 | 17296 | OMIM:268315 | ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | | | | 125 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | SCAPER CL E G H | 49855 | 13081 | OMIM:618195 | Intellectual developmental disorder and retinitis pigmentosa | | | | | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | SEMA4A CL E G H | 64218 | 10729 | OMIM:610283 | Cone-Rod dystrophy 10 | | | | 48 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | SNRNP200 CL E G H | 23020 | 30859 | OMIM:610359 | Retinitis pigmentosa 33 | | | | 83 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040282 - Frequent | | | 48 | | |
HP:0007703 | HP:0007793 | Granular macular appearance | 2 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | TTC8 CL E G H | 123016 | 20087 | OMIM:613464 | Retinitis pigmentosa 51 | . | | | 41 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | TULP1 CL E G H | 7287 | 12423 | OMIM:600132 | RETINITIS PIGMENTOSA 14; RP14 | | | | 66 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | USH2A CL E G H | 7399 | 12601 | OMIM:613809 | Retinitis pigmentosa 39 | . | | | 777 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616469 | Retinitis pigmentosa 72 | | | | 14 | | |
HP:0007703 | HP:0007737 | Bone spicule pigmentation of the retina | 2 | ZNF513 CL E G H | 130557 | 26498 | OMIM:613617 | Retinitis pigmentosa 58 | . | | | 27 | | |