Human Phenotype Ontology 
Grandparent Node:
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Abnormal fundus morphology (HP:0001098)help
Parent Node:
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Abnormal retinal morphology (HP:0000479)help
..Starting node
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Retinal detachment (HP:0000541)help
Term ID: 541
Name: Retinal detachment
Synonym: Detached retina; Retinal detachment
Definition: Separation of the inner layers of the retina (neural retina) from the pigment epithelium.
Comments:
Reference: HP:0000541
Genes and Diseases:
 
       Child Nodes:
........expandRetinal nonattachment (HP:0007899) help
........expandTractional retinal detachment (HP:0007917) help
................... HP:0007643 Peripheral tractional retinal detachment
........expandPeripheral retinal detachment (HP:0007929) help
........expandRhegmatogenous retinal detachment (HP:0012230) help
........expandExudative retinal detachment (HP:0012231) help

 Sister Nodes: 
..expandAbnormal chorioretinal morphology (HP:0000532) help
..expandAbnormal macular morphology (HP:0001103) help
..expandAbnormal retinal vascular morphology (HP:0008046) help
..expandAbnormality of retinal pigmentation (HP:0007703) help
..expandAngioid streaks of the fundus (HP:0001102) help
..expandAplasia/Hypoplasia of the retina (HP:0008061) help
..expandHypermyelinated retinal nerve fibers (HP:0007922) help
..expandIntraretinal fluid (HP:0031527) help
..expandRetinal coloboma (HP:0000480) help
..expandRetinal degeneration (HP:0000546) help
..expandRetinal dysplasia (HP:0007973) help
..expandRetinal dystrophy (HP:0000556) help
..expandRetinal fold (HP:0008052) help
..expandRetinal hamartoma (HP:0009594) help
..expandRetinal hemorrhage (HP:0000573) help
..expandRetinal infarction (HP:0007866) help
..expandRetinal neoplasm (HP:0012777) help
..expandRetinal perforation (HP:0011958) help
..expandRetinal thinning (HP:0030329) help
..expandRetinopathy (HP:0000488) help
..expandRetinoschisis (HP:0030502) help
..expandSub-RPE deposits (HP:0031531) help
..expandSubretinal deposits (HP:0031528) help
..expandSubretinal fluid (HP:0031526) help
..expandYellow/white lesions of the retina (HP:0030506) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000541HP:0000541Retinal detachment0ADAMTSL1 CL E G H9294914632ORPHA:521445Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndromeHP:0040282 - Frequent
HP:0000541HP:0000541Retinal detachment0ADAMTSL4 CL E G H5450719706OMIM:225200Ectopia lentis et pupillaeHP:0040283 - Occasional84
HP:0000541HP:0000541Retinal detachment0AKT1 CL E G H207391ORPHA:744Proteus syndrome54
HP:0000541HP:0000541Retinal detachment0ALDH1A3 CL E G H220409OMIM:615113Microphthalmia, isolated 8HP:0040283 - Occasional10
HP:0000541HP:0000541Retinal detachment0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000541HP:0000541Retinal detachment0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0000541HP:0000541Retinal detachment0ARL6IP6 CL E G H15118824048ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040282 - Frequent1
HP:0000541HP:0000541Retinal detachment0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000541HP:0000541Retinal detachment0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive4
HP:0000541HP:0000541Retinal detachment0B3GALNT2 CL E G H14878928596OMIM:615181MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11.43
HP:0000541HP:0000541Retinal detachment0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent43
HP:0000541HP:0000541Retinal detachment0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent17
HP:0000541HP:0000541Retinal detachment0BAP1 CL E G H8314950ORPHA:39044Uveal melanomaHP:0040282 - Frequent184
HP:0000541HP:0000541Retinal detachment0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2HP:0040283 - Occasional101
HP:0000541HP:0000541Retinal detachment0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040283 - Occasional101
HP:0000541HP:0000541Retinal detachment0BEST1 CL E G H743912703ORPHA:99000Adult-onset foveomacular vitelliform dystrophy182
HP:0000541HP:0000541Retinal detachment0BEST1 CL E G H743912703OMIM:613194Retinitis pigmentosa-50182
HP:0000541HP:0000541Retinal detachment0BEST1 CL E G H743912703OMIM:193220VITREORETINOCHOROIDOPATHY.182
HP:0000541HP:0000541Retinal detachment0CACNA1F CL E G H7781393OMIM:300476Cone-Rod dystrophy, X-linked, 3HP:0040283 - Occasional58
HP:0000541HP:0000541Retinal detachment0CAPN5 CL E G H7261482OMIM:193235Vitreoretinopathy, neovascular inflammatory.6
HP:0000541HP:0000541Retinal detachment0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040283 - Occasional242
HP:0000541HP:0000541Retinal detachment0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare1
HP:0000541HP:0000541Retinal detachment0CFH CL E G H30754883ORPHA:75376Familial drusen86
HP:0000541HP:0000541Retinal detachment0CFI CL E G H34265394ORPHA:75376Familial drusen57
HP:0000541HP:0000541Retinal detachment0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEAHP:0040283 - Occasional9
HP:0000541HP:0000541Retinal detachment0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0000541HP:0000541Retinal detachment0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent27
HP:0000541HP:0000541Retinal detachment0COL11A1 CL E G H13012186ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent215
HP:0000541HP:0000541Retinal detachment0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000541HP:0000541Retinal detachment0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040282 - Frequent215
HP:0000541HP:0000541Retinal detachment0COL11A1 CL E G H13012186ORPHA:90654Stickler syndrome type 2HP:0040281 - Very frequent215
HP:0000541HP:0000541Retinal detachment0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0000541HP:0000541Retinal detachment0COL18A1 CL E G H807812195ORPHA:1571Knobloch syndromeHP:0040281 - Very frequent177
HP:0000541HP:0000541Retinal detachment0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040283 - Occasional284
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040282 - Frequent284
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H12802200ORPHA:1856Spondyloperipheral dysplasia-short ulna syndromeHP:0040283 - Occasional284
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H12802200ORPHA:90653Stickler syndrome type 1HP:0040281 - Very frequent284
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H12802200OMIM:609508STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR284
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H12802200OMIM:619248VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED284
HP:0000541HP:0000541Retinal detachment0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent193
HP:0000541HP:0000541Retinal detachment0COL9A1 CL E G H12972217ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent110
HP:0000541HP:0000541Retinal detachment0COL9A2 CL E G H12982218ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent110
HP:0000541HP:0000541Retinal detachment0COL9A2 CL E G H12982218OMIM:614284Stickler syndrome, type V.110
HP:0000541HP:0000541Retinal detachment0COL9A3 CL E G H12992219ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent137
HP:0000541HP:0000541Retinal detachment0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0000541HP:0000541Retinal detachment0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0000541HP:0000541Retinal detachment0CTNNB1 CL E G H14992514OMIM:617572Exudative vitreoretinopathy 788
HP:0000541HP:0000541Retinal detachment0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathy88
HP:0000541HP:0000541Retinal detachment0CYP1B1 CL E G H15452597ORPHA:98976Congenital glaucomaHP:0040282 - Frequent101
HP:0000541HP:0000541Retinal detachment0CYSLTR2 CL E G H5710518274ORPHA:39044Uveal melanomaHP:0040282 - Frequent1
HP:0000541HP:0000541Retinal detachment0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent108
HP:0000541HP:0000541Retinal detachment0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional33
HP:0000541HP:0000541Retinal detachment0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040282 - Frequent13
HP:0000541HP:0000541Retinal detachment0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040284 - Very rare134
HP:0000541HP:0000541Retinal detachment0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040284 - Very rare134
HP:0000541HP:0000541Retinal detachment0EFEMP1 CL E G H22023218ORPHA:75376Familial drusen54
HP:0000541HP:0000541Retinal detachment0FAS CL E G H35511920ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040282 - Frequent59
HP:0000541HP:0000541Retinal detachment0FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0000541HP:0000541Retinal detachment0FBN1 CL E G H22003603ORPHA:2833Stiff skin syndromeHP:0040283 - Occasional1361
HP:0000541HP:0000541Retinal detachment0FKRP CL E G H7914717997ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare157
HP:0000541HP:0000541Retinal detachment0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000541HP:0000541Retinal detachment0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0000541HP:0000541Retinal detachment0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent157
HP:0000541HP:0000541Retinal detachment0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000541HP:0000541Retinal detachment0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0000541HP:0000541Retinal detachment0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent184
HP:0000541HP:0000541Retinal detachment0FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional
HP:0000541HP:0000541Retinal detachment0FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 11
HP:0000541HP:0000541Retinal detachment0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1.109
HP:0000541HP:0000541Retinal detachment0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathy109
HP:0000541HP:0000541Retinal detachment0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000541HP:0000541Retinal detachment0FZD4 CL E G H83224042ORPHA:90050Retinopathy of prematurity109
HP:0000541HP:0000541Retinal detachment0GMPPB CL E G H2992522932ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare34
HP:0000541HP:0000541Retinal detachment0GNA11 CL E G H27674379ORPHA:1556Cutis marmorata telangiectatica congenitaHP:0040282 - Frequent16
HP:0000541HP:0000541Retinal detachment0GNA11 CL E G H27674379ORPHA:39044Uveal melanomaHP:0040282 - Frequent16
HP:0000541HP:0000541Retinal detachment0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0000541HP:0000541Retinal detachment0GNAQ CL E G H27764390ORPHA:39044Uveal melanomaHP:0040282 - Frequent7
HP:0000541HP:0000541Retinal detachment0GZF1 CL E G H6441215808OMIM:617662Joint laxity, short stature, and myopiaHP:0040284 - Very rare
HP:0000541HP:0000541Retinal detachment0HLA-A CL E G H31054931ORPHA:179Birdshot chorioretinopathyHP:0040283 - Occasional4
HP:0000541HP:0000541Retinal detachment0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0000541HP:0000541Retinal detachment0IGFBP7 CL E G H34905476OMIM:614224Retinal arterial macroaneurysm with supravalvular pulmonic stenosis.2
HP:0000541HP:0000541Retinal detachment0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0000541HP:0000541Retinal detachment0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0000541HP:0000541Retinal detachment0IMPG1 CL E G H36176055ORPHA:99000Adult-onset foveomacular vitelliform dystrophy4
HP:0000541HP:0000541Retinal detachment0IMPG2 CL E G H5093918362ORPHA:99000Adult-onset foveomacular vitelliform dystrophy120
HP:0000541HP:0000541Retinal detachment0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0000541HP:0000541Retinal detachment0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional119
HP:0000541HP:0000541Retinal detachment0KCNJ13 CL E G H37696259OMIM:193230Snowflake vitreoretinal degeneration42
HP:0000541HP:0000541Retinal detachment0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000541HP:0000541Retinal detachment0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000541HP:0000541Retinal detachment0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0000541HP:0000541Retinal detachment0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000541HP:0000541Retinal detachment0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent136
HP:0000541HP:0000541Retinal detachment0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0000541HP:0000541Retinal detachment0LOC111365204 CL E G H111365204OMIM:600790Chorioretinal atrophy, progressive bifocal.
HP:0000541HP:0000541Retinal detachment0LOXL3 CL E G H8469513869ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent4
HP:0000541HP:0000541Retinal detachment0LOXL3 CL E G H8469513869OMIM:619781MYOPIA 28, AUTOSOMAL RECESSIVE; MYP284
HP:0000541HP:0000541Retinal detachment0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0000541HP:0000541Retinal detachment0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040282 - Frequent289
HP:0000541HP:0000541Retinal detachment0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000541HP:0000541Retinal detachment0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1.125
HP:0000541HP:0000541Retinal detachment0LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4125
HP:0000541HP:0000541Retinal detachment0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathy125
HP:0000541HP:0000541Retinal detachment0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040282 - Frequent125
HP:0000541HP:0000541Retinal detachment0LRP5 CL E G H40416697ORPHA:90050Retinopathy of prematurity125
HP:0000541HP:0000541Retinal detachment0LTBP2 CL E G H40536715ORPHA:98976Congenital glaucomaHP:0040282 - Frequent123
HP:0000541HP:0000541Retinal detachment0MAF CL E G H40946776OMIM:610202Cataract 21, multiple typesHP:0040283 - Occasional21
HP:0000541HP:0000541Retinal detachment0MYOC CL E G H46537610ORPHA:98976Congenital glaucomaHP:0040282 - Frequent47
HP:0000541HP:0000541Retinal detachment0NDP CL E G H46937678ORPHA:190Coats diseaseHP:0040282 - Frequent39
HP:0000541HP:0000541Retinal detachment0NDP CL E G H46937678OMIM:305390Exudative vitreoretinopathy 2, X-linked39
HP:0000541HP:0000541Retinal detachment0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathy39
HP:0000541HP:0000541Retinal detachment0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040282 - Frequent39
HP:0000541HP:0000541Retinal detachment0NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0000541HP:0000541Retinal detachment0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000541HP:0000541Retinal detachment0NDP CL E G H46937678ORPHA:90050Retinopathy of prematurity39
HP:0000541HP:0000541Retinal detachment0NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040283 - Occasional88
HP:0000541HP:0000541Retinal detachment0NRCAM CL E G H48977994OMIM:6198332
HP:0000541HP:0000541Retinal detachment0NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040283 - Occasional2
HP:0000541HP:0000541Retinal detachment0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0000541HP:0000541Retinal detachment0P3H2 CL E G H5521419317OMIM:614292Myopia, high, with cataract and vitreoretinal degenerationHP:0040283 - Occasional5
HP:0000541HP:0000541Retinal detachment0PAK2 CL E G H50628591OMIM:618458
HP:0000541HP:0000541Retinal detachment0PAK2 CL E G H50628591ORPHA:1571Knobloch syndromeHP:0040281 - Very frequent
HP:0000541HP:0000541Retinal detachment0PAX2 CL E G H50768616OMIM:120330Papillorenal syndromeHP:0040283 - Occasional39
HP:0000541HP:0000541Retinal detachment0PAX6 CL E G H50808620OMIM:120430Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included.194
HP:0000541HP:0000541Retinal detachment0PAX6 CL E G H50808620ORPHA:35737Morning glory disc anomalyHP:0040283 - Occasional194
HP:0000541HP:0000541Retinal detachment0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0000541HP:0000541Retinal detachment0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0000541HP:0000541Retinal detachment0POMGNT1 CL E G H5562419139ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare180
HP:0000541HP:0000541Retinal detachment0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent180
HP:0000541HP:0000541Retinal detachment0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent33
HP:0000541HP:0000541Retinal detachment0POMK CL E G H8419726267ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare18
HP:0000541HP:0000541Retinal detachment0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent18
HP:0000541HP:0000541Retinal detachment0POMT1 CL E G H105859202ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare213
HP:0000541HP:0000541Retinal detachment0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000541HP:0000541Retinal detachment0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent213
HP:0000541HP:0000541Retinal detachment0POMT2 CL E G H2995419743ORPHA:370959Congenital muscular dystrophy with cerebellar involvementHP:0040284 - Very rare221
HP:0000541HP:0000541Retinal detachment0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000541HP:0000541Retinal detachment0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent221
HP:0000541HP:0000541Retinal detachment0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional58
HP:0000541HP:0000541Retinal detachment0PRPH2 CL E G H59619942ORPHA:99000Adult-onset foveomacular vitelliform dystrophy159
HP:0000541HP:0000541Retinal detachment0PTEN CL E G H57289588ORPHA:744Proteus syndrome948
HP:0000541HP:0000541Retinal detachment0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040282 - Frequent948
HP:0000541HP:0000541Retinal detachment0PTPN22 CL E G H261919652ORPHA:3437Vogt-Koyanagi-Harada diseaseHP:0040282 - Frequent3
HP:0000541HP:0000541Retinal detachment0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040283 - Occasional150
HP:0000541HP:0000541Retinal detachment0RAI1 CL E G H107439834OMIM:182290Smith-Magenis syndrome150
HP:0000541HP:0000541Retinal detachment0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0000541HP:0000541Retinal detachment0RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0000541HP:0000541Retinal detachment0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040281 - Very frequent
HP:0000541HP:0000541Retinal detachment0SF3B1 CL E G H2345110768ORPHA:39044Uveal melanomaHP:0040282 - Frequent19
HP:0000541HP:0000541Retinal detachment0SIX6 CL E G H499010892OMIM:212550Optic disc anomalies with retinal and/or macular dystrophyHP:0040283 - Occasional20
HP:0000541HP:0000541Retinal detachment0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0000541HP:0000541Retinal detachment0TEK CL E G H701011724ORPHA:98976Congenital glaucomaHP:0040282 - Frequent78
HP:0000541HP:0000541Retinal detachment0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000541HP:0000541Retinal detachment0TSPAN12 CL E G H2355421641OMIM:613310Exudative vitreoretinopathy 539
HP:0000541HP:0000541Retinal detachment0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathy39
HP:0000541HP:0000541Retinal detachment0TUB CL E G H727512406OMIM:616188Retinal dystrophy and obesityHP:0040283 - Occasional1
HP:0000541HP:0000541Retinal detachment0TUBGCP6 CL E G H8537818127OMIM:251270Microcephaly and chorioretinopathy, autosomal recessive, 1.61
HP:0000541HP:0000541Retinal detachment0VCAN CL E G H14622464OMIM:143200Wagner vitreoretinopathy180
HP:0000541HP:0000541Retinal detachment0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare490
HP:0000541HP:0000541Retinal detachment0XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040283 - Occasional9
HP:0000541HP:0000541Retinal detachment0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040281 - Very frequent5
HP:0000541HP:0000541Retinal detachment0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome.5
HP:0000541HP:0000541Retinal detachment0YAP1 CL E G H1041316262ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disabilityHP:0040283 - Occasional2
HP:0000541HP:0000541Retinal detachment0ZNF408 CL E G H7979720041OMIM:616468Exudative vitreoretinopathy 6.14
HP:0000541HP:0000541Retinal detachment0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathy14
HP:0000541HP:0000541Retinal detachment0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040283 - Occasional397
HP:0000541HP:0007929Peripheral retinal detachment1 CL E G H
HP:0000541HP:0007899Retinal nonattachment1AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040283 - Occasional54
HP:0000541HP:0007917Tractional retinal detachment1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000541HP:0007899Retinal nonattachment1ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.HP:0003577 - Congenital onset4
HP:0000541HP:0007899Retinal nonattachment1BEST1 CL E G H743912703ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040283 - Occasional182
HP:0000541HP:0012231Exudative retinal detachment1CFH CL E G H30754883ORPHA:75376Familial drusenHP:0040283 - Occasional86
HP:0000541HP:0012231Exudative retinal detachment1CFI CL E G H34265394ORPHA:75376Familial drusenHP:0040283 - Occasional57
HP:0000541HP:0012230Rhegmatogenous retinal detachment1COL2A1 CL E G H12802200ORPHA:485Kniest dysplasiaHP:0040282 - Frequent284
HP:0000541HP:0012230Rhegmatogenous retinal detachment1COL2A1 CL E G H12802200OMIM:609508STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR284
HP:0000541HP:0012230Rhegmatogenous retinal detachment1COL2A1 CL E G H12802200OMIM:619248VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA; VPED284
HP:0000541HP:0007917Tractional retinal detachment1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent88
HP:0000541HP:0012230Rhegmatogenous retinal detachment1CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0000541HP:0012231Exudative retinal detachment1EFEMP1 CL E G H22023218ORPHA:75376Familial drusenHP:0040283 - Occasional54
HP:0000541HP:0012231Exudative retinal detachment1FRG1 CL E G H24833954OMIM:158900Facioscapulohumeral muscular dystrophy 1.1
HP:0000541HP:0012230Rhegmatogenous retinal detachment1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0000541HP:0007917Tractional retinal detachment1FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent109
HP:0000541HP:0007917Tractional retinal detachment1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000541HP:0007917Tractional retinal detachment1FZD4 CL E G H83224042ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional109
HP:0000541HP:0012231Exudative retinal detachment1IGFBP7 CL E G H34905476OMIM:614224Retinal arterial macroaneurysm with supravalvular pulmonic stenosis.2
HP:0000541HP:0007899Retinal nonattachment1IMPG1 CL E G H36176055ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040283 - Occasional4
HP:0000541HP:0007899Retinal nonattachment1IMPG2 CL E G H5093918362ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040283 - Occasional120
HP:0000541HP:0012230Rhegmatogenous retinal detachment1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040284 - Very rare70
HP:0000541HP:0012230Rhegmatogenous retinal detachment1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040284 - Very rare62
HP:0000541HP:0007917Tractional retinal detachment1LRP5 CL E G H40416697OMIM:601813Exudative vitreoretinopathy 4.125
HP:0000541HP:0012230Rhegmatogenous retinal detachment1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0000541HP:0007917Tractional retinal detachment1LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent125
HP:0000541HP:0007917Tractional retinal detachment1LRP5 CL E G H40416697ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional125
HP:0000541HP:0007917Tractional retinal detachment1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent39
HP:0000541HP:0012230Rhegmatogenous retinal detachment1NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0000541HP:0007917Tractional retinal detachment1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000541HP:0007917Tractional retinal detachment1NDP CL E G H46937678ORPHA:90050Retinopathy of prematurityHP:0040283 - Occasional39
HP:0000541HP:0007899Retinal nonattachment1PRPH2 CL E G H59619942ORPHA:99000Adult-onset foveomacular vitelliform dystrophyHP:0040283 - Occasional159
HP:0000541HP:0007899Retinal nonattachment1PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040283 - Occasional948
HP:0000541HP:0012230Rhegmatogenous retinal detachment1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040284 - Very rare129
HP:0000541HP:0012230Rhegmatogenous retinal detachment1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040284 - Very rare48
HP:0000541HP:0007917Tractional retinal detachment1TSPAN12 CL E G H2355421641OMIM:613310Exudative vitreoretinopathy 5HP:0040283 - Occasional39
HP:0000541HP:0012230Rhegmatogenous retinal detachment1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0000541HP:0007917Tractional retinal detachment1TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent39
HP:0000541HP:0007917Tractional retinal detachment1VCAN CL E G H14622464OMIM:143200Wagner vitreoretinopathy180
HP:0000541HP:0007917Tractional retinal detachment1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040282 - Frequent14
HP:0000541HP:0012230Rhegmatogenous retinal detachment1ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14
HP:0000541HP:0007643Peripheral tractional retinal detachment2VCAN CL E G H14622464OMIM:143200Wagner vitreoretinopathy.180


Genes (105) :ADAMTSL1 ADAMTSL4 AKT1 ALDH1A3 ALG12 ARL6IP6 ATOH7 B3GALNT2 B4GAT1 BAP1 BCOR BEST1 CACNA1F CAPN5 CBS CCND1 CFH CFI CHRDL1 CHST14 COL11A1 COL18A1 COL2A1 COL4A1 COL9A1 COL9A2 COL9A3 CRPPA CTNNB1 CYP1B1 CYSLTR2 DAG1 DEAF1 DSE DYRK1A EFEMP1 FAS FBN1 FKRP FKTN FLII FRG1 FZD4 GMPPB GNA11 GNAQ GZF1 HLA-A HMX1 IGFBP7 IKBKG IMPG1 IMPG2 IPO8 IQSEC2 KCNJ13 KIF11 LAMB2 LARGE1 LCA5 LOC111365204 LOXL3 LRAT LRP2 LRP5 LTBP2 MAF MYOC NDP NHS NRCAM NSMCE2 P3H2 PAK2 PAX2 PAX6 PLOD1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRDM5 PRPH2 PTEN PTPN22 RAI1 RPE65 RS1 RXYLT1 SF3B1 SIX6 SPATA7 TEK TENM3 TSPAN12 TUB TUBGCP6 VCAN VHL XRCC4 XYLT2 YAP1 ZNF408 ZNF469

Diseases (109) :ORPHA:521445 OMIM:225200 ORPHA:744 OMIM:615113 ORPHA:79324 OMIM:607143 ORPHA:1556 ORPHA:91495 OMIM:221900 OMIM:615181 ORPHA:899 ORPHA:39044 OMIM:300166 ORPHA:2712 ORPHA:99000 OMIM:613194 OMIM:193220 OMIM:300476 OMIM:193235 ORPHA:394 ORPHA:892 ORPHA:75376 OMIM:309300 OMIM:601776 ORPHA:2953 ORPHA:250984 OMIM:154780 ORPHA:560 ORPHA:90654 OMIM:604841 ORPHA:1571 OMIM:267750 ORPHA:93296 ORPHA:485 OMIM:156550 ORPHA:94068 OMIM:183900 ORPHA:1856 ORPHA:90653 OMIM:108300 OMIM:609508 OMIM:619248 OMIM:614284 OMIM:614643 OMIM:617572 ORPHA:891 ORPHA:98976 ORPHA:819 ORPHA:268261 ORPHA:464311 ORPHA:3437 OMIM:154700 ORPHA:2833 ORPHA:370959 OMIM:236670 OMIM:613153 OMIM:253800 OMIM:158900 OMIM:133780 ORPHA:90050 ORPHA:3205 OMIM:617662 ORPHA:179 OMIM:612109 OMIM:614224 ORPHA:464 OMIM:308300 OMIM:619472 OMIM:193230 OMIM:152950 ORPHA:2526 OMIM:609049 ORPHA:364055 OMIM:600790 OMIM:619781 ORPHA:2143 OMIM:222448 OMIM:601813 ORPHA:2788 OMIM:610202 ORPHA:190 OMIM:305390 ORPHA:649 OMIM:310600 ORPHA:627 OMIM:619833 ORPHA:436182 OMIM:617253 OMIM:614292 OMIM:618458 OMIM:120330 OMIM:120430 ORPHA:35737 OMIM:225400 ORPHA:1900 ORPHA:90354 ORPHA:2969 OMIM:182290 OMIM:312700 OMIM:212550 OMIM:615145 OMIM:613310 OMIM:616188 OMIM:251270 OMIM:143200 ORPHA:85194 OMIM:605822 ORPHA:1473 OMIM:616468
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.