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:0000541 | HP:0000541 | Retinal detachment | 0 | ADAMTSL1 CL E G H | 92949 | 14632 | ORPHA:521445 | Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome | HP:0040282 - Frequent | | | | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | OMIM:225200 | Ectopia lentis et pupillae | HP:0040283 - Occasional | | | 84 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | | | | 54 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | ALDH1A3 CL E G H | 220 | 409 | OMIM:615113 | Microphthalmia, isolated 8 | HP:0040283 - Occasional | | | 10 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | ALG12 CL E G H | 79087 | 19358 | ORPHA:79324 | ALG12-CDG | HP:0040283 - Occasional | | | 68 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | ALG12 CL E G H | 79087 | 19358 | OMIM:607143 | Congenital disorder of glycosylation, type Ig | . | | | 68 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | ARL6IP6 CL E G H | 151188 | 24048 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040282 - Frequent | | | 1 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | | | | 4 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 184 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:2712 | Oculofaciocardiodental syndrome | HP:0040283 - Occasional | | | 101 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | BEST1 CL E G H | 7439 | 12703 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 182 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:613194 | Retinitis pigmentosa-50 | | | | 182 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | BEST1 CL E G H | 7439 | 12703 | OMIM:193220 | VITREORETINOCHOROIDOPATHY | . | | | 182 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300476 | Cone-Rod dystrophy, X-linked, 3 | HP:0040283 - Occasional | | | 58 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CAPN5 CL E G H | 726 | 1482 | OMIM:193235 | Vitreoretinopathy, neovascular inflammatory | . | | | 6 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040283 - Occasional | | | 242 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CCND1 CL E G H | 595 | 1582 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040284 - Very rare | | | 1 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | | | | 86 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | | | | 57 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | HP:0040283 - Occasional | | | 9 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:90654 | Stickler syndrome type 2 | HP:0040281 - Very frequent | | | 215 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:604841 | Stickler syndrome, type II | | | | 215 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | HP:0040281 - Very frequent | | | 177 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:93296 | Achondrogenesis type 2 | HP:0040283 - Occasional | | | 284 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040282 - Frequent | | | 284 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:156550 | Kniest dysplasia | . | | | 284 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:94068 | Spondyloepiphyseal dysplasia congenita | HP:0040283 - Occasional | | | 284 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | | | | 284 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:1856 | Spondyloperipheral dysplasia-short ulna syndrome | HP:0040283 - Occasional | | | 284 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:90653 | Stickler syndrome type 1 | HP:0040281 - Very frequent | | | 284 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | . | | | 284 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609508 | STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR | | | | 284 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:619248 | VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED | | | | 284 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 193 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:614284 | Stickler syndrome, type V | . | | | 110 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:617572 | Exudative vitreoretinopathy 7 | | | | 88 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 88 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:98976 | Congenital glaucoma | HP:0040282 - Frequent | | | 101 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | CYSLTR2 CL E G H | 57105 | 18274 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 1 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 108 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040284 - Very rare | | | 134 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040284 - Very rare | | | 134 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | | | | 54 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | HP:0040282 - Frequent | | | 59 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | . | | | 1361 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2833 | Stiff skin syndrome | HP:0040283 - Occasional | | | 1361 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 157 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 157 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | . | | | 157 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 157 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 184 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | . | | | 184 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 184 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | | | | 1 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FZD4 CL E G H | 8322 | 4042 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 109 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 109 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:90050 | Retinopathy of prematurity | | | | 109 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 34 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:1556 | Cutis marmorata telangiectatica congenita | HP:0040282 - Frequent | | | 16 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | GNA11 CL E G H | 2767 | 4379 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 16 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 7 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | GZF1 CL E G H | 64412 | 15808 | OMIM:617662 | Joint laxity, short stature, and myopia | HP:0040284 - Very rare | | | | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | HLA-A CL E G H | 3105 | 4931 | ORPHA:179 | Birdshot chorioretinopathy | HP:0040283 - Occasional | | | 4 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | HMX1 CL E G H | 3166 | 5017 | OMIM:612109 | Oculoauricular syndrome | | | | 2 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | IGFBP7 CL E G H | 3490 | 5476 | OMIM:614224 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | . | | | 2 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:308300 | Incontinentia pigmenti | . | | | 52 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 4 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 120 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 119 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | KCNJ13 CL E G H | 3769 | 6259 | OMIM:193230 | Snowflake vitreoretinal degeneration | | | | 42 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | . | | | 46 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 136 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 136 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 70 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LOC111365204 CL E G H | 111365204 | | OMIM:600790 | Chorioretinal atrophy, progressive bifocal | . | | | | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LOXL3 CL E G H | 84695 | 13869 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LOXL3 CL E G H | 84695 | 13869 | OMIM:619781 | MYOPIA 28, AUTOSOMAL RECESSIVE; MYP28 | | | | 4 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 62 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LRP2 CL E G H | 4036 | 6694 | OMIM:222448 | Donnai-Barrow syndrome | | | | 289 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 125 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | | | | 125 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 125 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:90050 | Retinopathy of prematurity | | | | 125 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | LTBP2 CL E G H | 4053 | 6715 | ORPHA:98976 | Congenital glaucoma | HP:0040282 - Frequent | | | 123 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | MAF CL E G H | 4094 | 6776 | OMIM:610202 | Cataract 21, multiple types | HP:0040283 - Occasional | | | 21 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | MYOC CL E G H | 4653 | 7610 | ORPHA:98976 | Congenital glaucoma | HP:0040282 - Frequent | | | 47 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:190 | Coats disease | HP:0040282 - Frequent | | | 39 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 39 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040282 - Frequent | | | 39 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | . | | | 39 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:90050 | Retinopathy of prematurity | | | | 39 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NHS CL E G H | 4810 | 7820 | ORPHA:627 | Nance-Horan syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NRCAM CL E G H | 4897 | 7994 | OMIM:619833 | | | | | 2 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NSMCE2 CL E G H | 286053 | 26513 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | | | | 2 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | HP:0040283 - Occasional | | | 5 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PAX2 CL E G H | 5076 | 8616 | OMIM:120330 | Papillorenal syndrome | HP:0040283 - Occasional | | | 39 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:120430 | Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included | . | | | 194 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:35737 | Morning glory disc anomaly | HP:0040283 - Occasional | | | 194 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PLOD1 CL E G H | 5351 | 9081 | ORPHA:1900 | Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | HP:0040283 - Occasional | | | 105 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 180 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 180 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 18 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 18 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 213 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 213 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 213 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040284 - Very rare | | | 221 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | . | | | 221 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | 221 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PRDM5 CL E G H | 11107 | 9349 | ORPHA:90354 | Brittle cornea syndrome | HP:0040283 - Occasional | | | 58 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | | | | 159 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | | | | 948 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:2969 | Proteus-like syndrome | HP:0040282 - Frequent | | | 948 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:3437 | Vogt-Koyanagi-Harada disease | HP:0040282 - Frequent | | | 3 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040283 - Occasional | | | 150 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | RAI1 CL E G H | 10743 | 9834 | OMIM:182290 | Smith-Magenis syndrome | | | | 150 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 129 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:39044 | Uveal melanoma | HP:0040282 - Frequent | | | 19 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:212550 | Optic disc anomalies with retinal and/or macular dystrophy | HP:0040283 - Occasional | | | 20 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040283 - Occasional | | | 48 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | TEK CL E G H | 7010 | 11724 | ORPHA:98976 | Congenital glaucoma | HP:0040282 - Frequent | | | 78 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | TENM3 CL E G H | 55714 | 29944 | OMIM:615145 | Microphthalmia, isolated, with coloboma 9 | . | | | 12 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | TSPAN12 CL E G H | 23554 | 21641 | OMIM:613310 | Exudative vitreoretinopathy 5 | | | | 39 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 39 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | TUB CL E G H | 7275 | 12406 | OMIM:616188 | Retinal dystrophy and obesity | HP:0040283 - Occasional | | | 1 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | TUBGCP6 CL E G H | 85378 | 18127 | OMIM:251270 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | . | | | 61 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | | | | 180 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | VHL CL E G H | 7428 | 12687 | ORPHA:892 | Von Hippel-Lindau disease | HP:0040284 - Very rare | | | 490 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | XRCC4 CL E G H | 7518 | 12831 | ORPHA:436182 | Microcephalic primordial dwarfism-insulin resistance syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | XYLT2 CL E G H | 64132 | 15517 | ORPHA:85194 | Spondylo-ocular syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:605822 | Spondyloocular syndrome | . | | | 5 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | YAP1 CL E G H | 10413 | 16262 | ORPHA:1473 | Uveal coloboma-cleft lip and palate-intellectual disability | HP:0040283 - Occasional | | | 2 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | . | | | 14 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | | | | 14 | | |
HP:0000541 | HP:0000541 | Retinal detachment | 0 | ZNF469 CL E G H | 84627 | 23216 | ORPHA:90354 | Brittle cornea syndrome | HP:0040283 - Occasional | | | 397 | | |
HP:0000541 | HP:0007929 | Peripheral retinal detachment | 1 | CL E G H | | | | | | | | | | |
HP:0000541 | HP:0007899 | Retinal nonattachment | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 54 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000541 | HP:0007899 | Retinal nonattachment | 1 | ATOH7 CL E G H | 220202 | 13907 | OMIM:221900 | Persistent hyperplastic primary vitreous, autosomal recessive | . | HP:0003577 - Congenital onset | | 4 | | |
HP:0000541 | HP:0007899 | Retinal nonattachment | 1 | BEST1 CL E G H | 7439 | 12703 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040283 - Occasional | | | 182 | | |
HP:0000541 | HP:0012231 | Exudative retinal detachment | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 86 | | |
HP:0000541 | HP:0012231 | Exudative retinal detachment | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 57 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040282 - Frequent | | | 284 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:609508 | STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR | | | | 284 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:619248 | VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED | | | | 284 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040282 - Frequent | | | 88 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 88 | | |
HP:0000541 | HP:0012231 | Exudative retinal detachment | 1 | EFEMP1 CL E G H | 2202 | 3218 | ORPHA:75376 | Familial drusen | HP:0040283 - Occasional | | | 54 | | |
HP:0000541 | HP:0012231 | Exudative retinal detachment | 1 | FRG1 CL E G H | 2483 | 3954 | OMIM:158900 | Facioscapulohumeral muscular dystrophy 1 | . | | | 1 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 109 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040282 - Frequent | | | 109 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 109 | | |
HP:0000541 | HP:0012231 | Exudative retinal detachment | 1 | IGFBP7 CL E G H | 3490 | 5476 | OMIM:614224 | Retinal arterial macroaneurysm with supravalvular pulmonic stenosis | . | | | 2 | | |
HP:0000541 | HP:0007899 | Retinal nonattachment | 1 | IMPG1 CL E G H | 3617 | 6055 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040283 - Occasional | | | 4 | | |
HP:0000541 | HP:0007899 | Retinal nonattachment | 1 | IMPG2 CL E G H | 50939 | 18362 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040283 - Occasional | | | 120 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | LCA5 CL E G H | 167691 | 31923 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040284 - Very rare | | | 70 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | LRAT CL E G H | 9227 | 6685 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040284 - Very rare | | | 62 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 125 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040282 - Frequent | | | 125 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 125 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040282 - Frequent | | | 39 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 39 | | |
HP:0000541 | HP:0007899 | Retinal nonattachment | 1 | PRPH2 CL E G H | 5961 | 9942 | ORPHA:99000 | Adult-onset foveomacular vitelliform dystrophy | HP:0040283 - Occasional | | | 159 | | |
HP:0000541 | HP:0007899 | Retinal nonattachment | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:744 | Proteus syndrome | HP:0040283 - Occasional | | | 948 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | RPE65 CL E G H | 6121 | 10294 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040284 - Very rare | | | 129 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:364055 | Severe early-childhood-onset retinal dystrophy | HP:0040284 - Very rare | | | 48 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | TSPAN12 CL E G H | 23554 | 21641 | OMIM:613310 | Exudative vitreoretinopathy 5 | HP:0040283 - Occasional | | | 39 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 39 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040282 - Frequent | | | 39 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | | | | 180 | | |
HP:0000541 | HP:0007917 | Tractional retinal detachment | 1 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040282 - Frequent | | | 14 | | |
HP:0000541 | HP:0012230 | Rhegmatogenous retinal detachment | 1 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0000541 | HP:0007643 | Peripheral tractional retinal detachment | 2 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | . | | | 180 | | |