Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | | | | 178 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | ADAMTS18 CL E G H | 170692 | 17110 | OMIM:615458 | Microcornea, myopic chorioretinal atrophy, and telecanthus | . | | | 8 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | | | | 20 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | . | | | 47 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | CLCN2 CL E G H | 1181 | 2020 | OMIM:615651 | Leukoencephalopathy with ataxia | | | | 44 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 3 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | | | | 156 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | | | | 156 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | | | | 158 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 88 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | | | | 126 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040282 - Frequent | | | 126 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | DPP6 CL E G H | 1804 | 3010 | OMIM:616311 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33 | | | | 18 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | | | | 209 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | FSCN2 CL E G H | 25794 | 3960 | OMIM:607921 | RETINITIS PIGMENTOSA 30; RP30 | | | | 26 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 109 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 33 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 24 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 124 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:215500 | Choroidal dystrophy, central areolar 1 | | | | 124 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | | | | 124 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | | | | 99 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 70 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | LOC111365204 CL E G H | 111365204 | | OMIM:600790 | Chorioretinal atrophy, progressive bifocal | | | | | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 62 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 125 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | | | | 96 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 39 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | | | | 30 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | HP:0040281 - Very frequent | | | 94 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | OAT CL E G H | 4942 | 8091 | OMIM:258870 | Ornithine aminotransferase deficiency | | | | 94 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 4 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | | | | 39 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | | | | 159 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:613105 | Choroidal dystrophy, central areolar 2 | | | | 159 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 159 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | | | | 38 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | RP2 CL E G H | 6102 | 10274 | OMIM:312600 | Retinitis pigmentosa 2, X-linked | | | | 45 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:618697 | RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 | | | | 129 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 129 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | SAG CL E G H | 6295 | 10521 | OMIM:613758 | RETINITIS PIGMENTOSA 47; RP47 | | | | 32 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | | | | 88 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | | | | 88 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | | | | 48 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | TEAD1 CL E G H | 7003 | 11714 | OMIM:108985 | Sveinsson chorioretinal atrophy | | | | 1 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | TIMP3 CL E G H | 7078 | 11822 | OMIM:136900 | Sorsby fundus dystrophy | | | | 95 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | | | | 95 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 39 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | | | | 180 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 47 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040284 - Very rare | | | 8 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | | | | 14 | | |
HP:0200065 | HP:0200065 | Chorioretinal degeneration | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 14 | | |
HP:0200065 | HP:0007777 | Chorioretinal scar | 1 | CL E G H | | | | | | | | | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | | | | 178 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | C1QTNF5 CL E G H | 114902 | 14344 | ORPHA:67042 | Late-onset retinal degeneration | HP:0040282 - Frequent | | | 20 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | CHM CL E G H | 1121 | 1940 | OMIM:303100 | CHOROIDEREMIA | . | | | 47 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | CLCN2 CL E G H | 1181 | 2020 | OMIM:615651 | Leukoencephalopathy with ataxia | | | | 44 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | | | | 156 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | | | | 156 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | CRX CL E G H | 1406 | 2383 | OMIM:120970 | Cone-Rod dystrophy 2 | . | | | 158 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 88 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | CYP4V2 CL E G H | 285440 | 23198 | OMIM:210370 | Bietti crystalline corneoretinal dystrophy | . | | | 126 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | | | | 126 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | EYS CL E G H | 346007 | 21555 | OMIM:602772 | Retinitis pigmentosa 25 | HP:0040284 - Very rare | | | 209 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | FSCN2 CL E G H | 25794 | 3960 | OMIM:607921 | RETINITIS PIGMENTOSA 30; RP30 | | | | 26 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 109 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 124 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | GUCY2D CL E G H | 3000 | 4689 | OMIM:215500 | Choroidal dystrophy, central areolar 1 | . | | | 124 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | GUCY2D CL E G H | 3000 | 4689 | OMIM:601777 | Cone-Rod dystrophy 6 | | | | 124 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | LOC111365204 CL E G H | 111365204 | | OMIM:600790 | Chorioretinal atrophy, progressive bifocal | . | | | | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040283 - Occasional | | | 96 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | . | | | 30 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | OAT CL E G H | 4942 | 8091 | ORPHA:414 | Gyrate atrophy of choroid and retina | HP:0040281 - Very frequent | | | 94 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | OAT CL E G H | 4942 | 8091 | OMIM:258870 | Ornithine aminotransferase deficiency | . | | | 94 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | . | | | 39 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 159 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | PRPH2 CL E G H | 5961 | 9942 | OMIM:613105 | Choroidal dystrophy, central areolar 2 | | | | 159 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | PRPH2 CL E G H | 5961 | 9942 | OMIM:608133 | Retinitis pigmentosa 7 | HP:0040283 - Occasional | | | 159 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | ROM1 CL E G H | 6094 | 10254 | OMIM:608133 | Retinitis pigmentosa 7 | HP:0040283 - Occasional | | | 38 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | RPE65 CL E G H | 6121 | 10294 | OMIM:618697 | RETINITIS PIGMENTOSA 87 WITH CHOROIDAL INVOLVEMENT; RP87 | | | | 129 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | SAG CL E G H | 6295 | 10521 | OMIM:613758 | RETINITIS PIGMENTOSA 47; RP47 | | | | 32 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | HP:0040284 - Very rare | | | 88 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040284 - Very rare | | | 88 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | TEAD1 CL E G H | 7003 | 11714 | OMIM:108985 | Sveinsson chorioretinal atrophy | | | | 1 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | TIMP3 CL E G H | 7078 | 11822 | OMIM:136900 | Sorsby fundus dystrophy | | | | 95 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040283 - Occasional | | | 95 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | . | | | 180 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | HP:0040283 - Occasional | | | 14 | | |
HP:0200065 | HP:0000533 | Chorioretinal atrophy | 1 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0200065 | HP:0030491 | Choriocapillaris atrophy | 2 | ACVRL1 CL E G H | 94 | 175 | OMIM:600376 | Telangiectasia, hereditary hemorrhagic, type 2 | . | | | 178 | | |
HP:0200065 | HP:0007950 | Peripapillary chorioretinal atrophy | 2 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 86 | | |
HP:0200065 | HP:0007950 | Peripapillary chorioretinal atrophy | 2 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 57 | | |
HP:0200065 | HP:0030491 | Choriocapillaris atrophy | 2 | CRB1 CL E G H | 23418 | 2343 | OMIM:613835 | Leber congenital amaurosis 8 | . | | | 156 | | |
HP:0200065 | HP:0007903 | Paravenous chorioretinal atrophy | 2 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | . | | | 156 | | |
HP:0200065 | HP:0030491 | Choriocapillaris atrophy | 2 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040282 - Frequent | | | 126 | | |
HP:0200065 | HP:0007950 | Peripapillary chorioretinal atrophy | 2 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 54 | | |
HP:0200065 | HP:0030491 | Choriocapillaris atrophy | 2 | GUCA1A CL E G H | 2978 | 4678 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0200065 | HP:0030491 | Choriocapillaris atrophy | 2 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 124 | | |
HP:0200065 | HP:0030491 | Choriocapillaris atrophy | 2 | GUCY2D CL E G H | 3000 | 4689 | OMIM:215500 | Choroidal dystrophy, central areolar 1 | . | | | 124 | | |
HP:0200065 | HP:0007950 | Peripapillary chorioretinal atrophy | 2 | NRL CL E G H | 4901 | 8002 | OMIM:613750 | Retinitis pigmentosa 27 | . | | | 30 | | |
HP:0200065 | HP:0030491 | Choriocapillaris atrophy | 2 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:75377 | Central areolar choroidal dystrophy | HP:0040283 - Occasional | | | 159 | | |
HP:0200065 | HP:0007950 | Peripapillary chorioretinal atrophy | 2 | TEAD1 CL E G H | 7003 | 11714 | OMIM:108985 | Sveinsson chorioretinal atrophy | . | | | 1 | | |
HP:0200065 | HP:0030491 | Choriocapillaris atrophy | 2 | TIMP3 CL E G H | 7078 | 11822 | ORPHA:59181 | Sorsby pseudoinflammatory fundus dystrophy | HP:0040282 - Frequent | | | 95 | | |