Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal fundus morphology (HP:0001098)help
Parent Node:
expand
Abnormal retinal morphology (HP:0000479)help
..Starting node
..expand
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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000541HP:0000541Retinal detachment0ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0000541HP:0000541Retinal detachment0ARL6IP6 CL E G H1511881556ORPHA131924048616495
HP:0000541HP:0000541Retinal detachment0B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0000541HP:0000541Retinal detachment0B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0000541HP:0000541Retinal detachment0B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0000541HP:0000541Retinal detachment0BAP1 CL E G H831439044ORPHA11191261950603089
HP:0000541HP:0000541Retinal detachment0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131935412703607854
HP:0000541HP:0000541Retinal detachment0BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131935412703607854
HP:0000541HP:0000541Retinal detachment0CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM112891482602537
HP:0000541HP:0000541Retinal detachment0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000541HP:0000541Retinal detachment0COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0000541HP:0000541Retinal detachment0COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000541HP:0000541Retinal detachment0COL11A1 CL E G H1301250984ORPHA11065602186120280
HP:0000541HP:0000541Retinal detachment0COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000541HP:0000541Retinal detachment0COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0000541HP:0000541Retinal detachment0COL18A1 CL E G H807811571ORPHA1364472195120328
HP:0000541HP:0000541Retinal detachment0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1364472195120328
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H128093346ORPHA15707312200120140
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM15707312200120140
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15707312200120140
HP:0000541HP:0000541Retinal detachment0COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0000541HP:0000541Retinal detachment0COL9A1 CL E G H1297250984ORPHA162812217120210
HP:0000541HP:0000541Retinal detachment0COL9A2 CL E G H1298250984ORPHA1132152218120260
HP:0000541HP:0000541Retinal detachment0COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM1132152218120260
HP:0000541HP:0000541Retinal detachment0COL9A3 CL E G H1299250984ORPHA1171842219120270
HP:0000541HP:0000541Retinal detachment0CYP1B1 CL E G H154598976ORPHA12432162597601771
HP:0000541HP:0000541Retinal detachment0CYSLTR2 CL E G H5710539044ORPHA126218274605666
HP:0000541HP:0000541Retinal detachment0DAG1 CL E G H1605899ORPHA1113012666128239
HP:0000541HP:0000541Retinal detachment0FAS CL E G H3553437ORPHA114216911920134637
HP:0000541HP:0000541Retinal detachment0FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0000541HP:0000541Retinal detachment0FKRP CL E G H79147899ORPHA114140217997606596
HP:0000541HP:0000541Retinal detachment0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000541HP:0000541Retinal detachment0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000541HP:0000541Retinal detachment0FKTN CL E G H2218899ORPHA1594503622607440
HP:0000541HP:0000541Retinal detachment0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000541HP:0000541Retinal detachment0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000541HP:0000541Retinal detachment0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0000541HP:0000541Retinal detachment0GNA11 CL E G H276739044ORPHA111624379139313
HP:0000541HP:0000541Retinal detachment0GNAQ CL E G H277639044ORPHA16584390600998
HP:0000541HP:0000541Retinal detachment0IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0000541HP:0000541Retinal detachment0ISPD CL E G H729920899ORPHA147537276614631
HP:0000541HP:0000541Retinal detachment0ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0000541HP:0000541Retinal detachment0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000541HP:0000541Retinal detachment0LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0000541HP:0000541Retinal detachment0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000541HP:0000541Retinal detachment0LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM1466006694600073
HP:0000541HP:0000541Retinal detachment0LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000541HP:0000541Retinal detachment0LRP5 CL E G H40412788ORPHA12214116697603506
HP:0000541HP:0000541Retinal detachment0LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM12214116697603506
HP:0000541HP:0000541Retinal detachment0LTBP2 CL E G H405398976ORPHA1292996715602091
HP:0000541HP:0000541Retinal detachment0MYOC CL E G H465398976ORPHA11431037610601652
HP:0000541HP:0000541Retinal detachment0NDP CL E G H4693190ORPHA11672077678300658
HP:0000541HP:0000541Retinal detachment0NDP CL E G H4693649ORPHA11672077678300658
HP:0000541HP:0000541Retinal detachment0NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672077678300658
HP:0000541HP:0000541Retinal detachment0NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM11672077678300658
HP:0000541HP:0000541Retinal detachment0NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM125726513617246
HP:0000541HP:0000541Retinal detachment0PAX6 CL E G H5080120430Coloboma of optic disc120430C0155299OMIM15714968620607108
HP:0000541HP:0000541Retinal detachment0PLOD1 CL E G H53511900ORPHA1424409081153454
HP:0000541HP:0000541Retinal detachment0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0000541HP:0000541Retinal detachment0POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0000541HP:0000541Retinal detachment0POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0000541HP:0000541Retinal detachment0POMK CL E G H84197899ORPHA1814826267615247
HP:0000541HP:0000541Retinal detachment0POMT1 CL E G H10585899ORPHA1965089202607423
HP:0000541HP:0000541Retinal detachment0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000541HP:0000541Retinal detachment0POMT2 CL E G H29954899ORPHA17550219743607439
HP:0000541HP:0000541Retinal detachment0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000541HP:0000541Retinal detachment0PTEN CL E G H57282969ORPHA165820199588601728
HP:0000541HP:0000541Retinal detachment0PTPN22 CL E G H261913437ORPHA114289652600716
HP:0000541HP:0000541Retinal detachment0RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0000541HP:0000541Retinal detachment0SF3B1 CL E G H2345139044ORPHA146410768605590
HP:0000541HP:0000541Retinal detachment0TEK CL E G H701098976ORPHA13521011724600221
HP:0000541HP:0000541Retinal detachment0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317829944610083
HP:0000541HP:0000541Retinal detachment0TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1748418127610053
HP:0000541HP:0000541Retinal detachment0XYLT2 CL E G H6413285194ORPHA1135715517608125
HP:0000541HP:0000541Retinal detachment0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0000541HP:0000541Retinal detachment0ZNF408 CL E G H79797616468Exudative vitreoretinopathy 6616468C4225316OMIM11411220041616454
HP:0000541HP:0000541Retinal detachment1ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0000541HP:0000541Retinal detachment1ARL6IP6 CL E G H1511881556ORPHA131924048616495
HP:0000541HP:0000541Retinal detachment1B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0000541HP:0000541Retinal detachment1B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0000541HP:0000541Retinal detachment1B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0000541HP:0000541Retinal detachment1BAP1 CL E G H831439044ORPHA11191261950603089
HP:0000541HP:0000541Retinal detachment1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131935412703607854
HP:0000541HP:0000541Retinal detachment1BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131935412703607854
HP:0000541HP:0000541Retinal detachment1CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM112891482602537
HP:0000541HP:0000541Retinal detachment1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000541HP:0000541Retinal detachment1COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000541HP:0000541Retinal detachment1COL11A1 CL E G H1301250984ORPHA11065602186120280
HP:0000541HP:0000541Retinal detachment1COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0000541HP:0000541Retinal detachment1COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000541HP:0000541Retinal detachment1COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0000541HP:0000541Retinal detachment1COL18A1 CL E G H807811571ORPHA1364472195120328
HP:0000541HP:0000541Retinal detachment1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1364472195120328
HP:0000541HP:0000541Retinal detachment1COL2A1 CL E G H128093346ORPHA15707312200120140
HP:0000541HP:0000541Retinal detachment1COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0000541HP:0000541Retinal detachment1COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0000541HP:0000541Retinal detachment1COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0000541HP:0000541Retinal detachment1COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM15707312200120140
HP:0000541HP:0000541Retinal detachment1COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15707312200120140
HP:0000541HP:0000541Retinal detachment1COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0000541HP:0000541Retinal detachment1COL9A1 CL E G H1297250984ORPHA162812217120210
HP:0000541HP:0000541Retinal detachment1COL9A2 CL E G H1298250984ORPHA1132152218120260
HP:0000541HP:0000541Retinal detachment1COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM1132152218120260
HP:0000541HP:0000541Retinal detachment1COL9A3 CL E G H1299250984ORPHA1171842219120270
HP:0000541HP:0000541Retinal detachment1CYP1B1 CL E G H154598976ORPHA12432162597601771
HP:0000541HP:0000541Retinal detachment1CYSLTR2 CL E G H5710539044ORPHA126218274605666
HP:0000541HP:0000541Retinal detachment1DAG1 CL E G H1605899ORPHA1113012666128239
HP:0000541HP:0000541Retinal detachment1FAS CL E G H3553437ORPHA114216911920134637
HP:0000541HP:0000541Retinal detachment1FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0000541HP:0000541Retinal detachment1FKRP CL E G H79147899ORPHA114140217997606596
HP:0000541HP:0000541Retinal detachment1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000541HP:0000541Retinal detachment1FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000541HP:0000541Retinal detachment1FKTN CL E G H2218899ORPHA1594503622607440
HP:0000541HP:0000541Retinal detachment1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000541HP:0000541Retinal detachment1FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000541HP:0000541Retinal detachment1FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0000541HP:0000541Retinal detachment1GNA11 CL E G H276739044ORPHA111624379139313
HP:0000541HP:0000541Retinal detachment1GNAQ CL E G H277639044ORPHA16584390600998
HP:0000541HP:0000541Retinal detachment1IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0000541HP:0000541Retinal detachment1ISPD CL E G H729920899ORPHA147537276614631
HP:0000541HP:0000541Retinal detachment1ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0000541HP:0000541Retinal detachment1KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000541HP:0000541Retinal detachment1LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0000541HP:0000541Retinal detachment1LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000541HP:0000541Retinal detachment1LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM1466006694600073
HP:0000541HP:0000541Retinal detachment1LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000541HP:0000541Retinal detachment1LRP5 CL E G H40412788ORPHA12214116697603506
HP:0000541HP:0000541Retinal detachment1LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM12214116697603506
HP:0000541HP:0000541Retinal detachment1LTBP2 CL E G H405398976ORPHA1292996715602091
HP:0000541HP:0000541Retinal detachment1MYOC CL E G H465398976ORPHA11431037610601652
HP:0000541HP:0000541Retinal detachment1NDP CL E G H4693190ORPHA11672077678300658
HP:0000541HP:0000541Retinal detachment1NDP CL E G H4693649ORPHA11672077678300658
HP:0000541HP:0000541Retinal detachment1NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672077678300658
HP:0000541HP:0000541Retinal detachment1NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM11672077678300658
HP:0000541HP:0000541Retinal detachment1NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM125726513617246
HP:0000541HP:0000541Retinal detachment1PAX6 CL E G H5080120430Coloboma of optic disc120430C0155299OMIM15714968620607108
HP:0000541HP:0000541Retinal detachment1PLOD1 CL E G H53511900ORPHA1424409081153454
HP:0000541HP:0000541Retinal detachment1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0000541HP:0000541Retinal detachment1POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0000541HP:0000541Retinal detachment1POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0000541HP:0000541Retinal detachment1POMK CL E G H84197899ORPHA1814826267615247
HP:0000541HP:0000541Retinal detachment1POMT1 CL E G H10585899ORPHA1965089202607423
HP:0000541HP:0000541Retinal detachment1POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000541HP:0000541Retinal detachment1POMT2 CL E G H29954899ORPHA17550219743607439
HP:0000541HP:0000541Retinal detachment1POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000541HP:0000541Retinal detachment1PTEN CL E G H57282969ORPHA165820199588601728
HP:0000541HP:0000541Retinal detachment1PTPN22 CL E G H261913437ORPHA114289652600716
HP:0000541HP:0000541Retinal detachment1RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0000541HP:0000541Retinal detachment1SF3B1 CL E G H2345139044ORPHA146410768605590
HP:0000541HP:0000541Retinal detachment1TEK CL E G H701098976ORPHA13521011724600221
HP:0000541HP:0000541Retinal detachment1TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317829944610083
HP:0000541HP:0000541Retinal detachment1TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1748418127610053
HP:0000541HP:0000541Retinal detachment1XYLT2 CL E G H6413285194ORPHA1135715517608125
HP:0000541HP:0000541Retinal detachment1XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0000541HP:0000541Retinal detachment1ZNF408 CL E G H79797616468Exudative vitreoretinopathy 6616468C4225316OMIM11411220041616454
HP:0000541HP:0000541Retinal detachment2ADAMTSL1 CL E G H92949521445ORPHA1310814632609198
HP:0000541HP:0000541Retinal detachment2ARL6IP6 CL E G H1511881556ORPHA131924048616495
HP:0000541HP:0000541Retinal detachment2B3GALNT2 CL E G H148789899ORPHA11622128596610194
HP:0000541HP:0000541Retinal detachment2B3GALNT2 CL E G H148789615181Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11615181C3554638OMIM11622128596610194
HP:0000541HP:0000541Retinal detachment2B4GAT1 CL E G H11041899ORPHA178415685605517
HP:0000541HP:0000541Retinal detachment2BAP1 CL E G H831439044ORPHA11191261950603089
HP:0000541HP:0000541Retinal detachment2BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131935412703607854
HP:0000541HP:0000541Retinal detachment2BEST1 CL E G H7439193220Vitreoretinochoroidopathy193220C1860406OMIM131935412703607854
HP:0000541HP:0000541Retinal detachment2CAPN5 CL E G H726193235Vitreoretinopathy, neovascular inflammatory193235C0242852OMIM112891482602537
HP:0000541HP:0000541Retinal detachment2CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0000541HP:0000541Retinal detachment2COL11A1 CL E G H1301250984ORPHA11065602186120280
HP:0000541HP:0000541Retinal detachment2COL11A1 CL E G H130190654ORPHA11065602186120280
HP:0000541HP:0000541Retinal detachment2COL11A1 CL E G H1301560ORPHA11065602186120280
HP:0000541HP:0000541Retinal detachment2COL11A1 CL E G H1301154780Marshall syndrome154780C0265235OMIM11065602186120280
HP:0000541HP:0000541Retinal detachment2COL11A1 CL E G H1301604841Stickler syndrome, type 2604841C1858084OMIM11065602186120280
HP:0000541HP:0000541Retinal detachment2COL18A1 CL E G H807811571ORPHA1364472195120328
HP:0000541HP:0000541Retinal detachment2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1364472195120328
HP:0000541HP:0000541Retinal detachment2COL2A1 CL E G H128090653ORPHA15707312200120140
HP:0000541HP:0000541Retinal detachment2COL2A1 CL E G H1280485ORPHA15707312200120140
HP:0000541HP:0000541Retinal detachment2COL2A1 CL E G H128093346ORPHA15707312200120140
HP:0000541HP:0000541Retinal detachment2COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0000541HP:0000541Retinal detachment2COL2A1 CL E G H1280183900Spondyloepiphyseal dysplasia183900C0038015OMIM15707312200120140
HP:0000541HP:0000541Retinal detachment2COL2A1 CL E G H1280108300Stickler syndrome type 1108300C2020284OMIM15707312200120140
HP:0000541HP:0000541Retinal detachment2COL4A1 CL E G H1282899ORPHA11144982202120130
HP:0000541HP:0000541Retinal detachment2COL9A1 CL E G H1297250984ORPHA162812217120210
HP:0000541HP:0000541Retinal detachment2COL9A2 CL E G H1298250984ORPHA1132152218120260
HP:0000541HP:0000541Retinal detachment2COL9A2 CL E G H1298614284Stickler syndrome, type 5614284C3280342OMIM1132152218120260
HP:0000541HP:0000541Retinal detachment2COL9A3 CL E G H1299250984ORPHA1171842219120270
HP:0000541HP:0000541Retinal detachment2CYP1B1 CL E G H154598976ORPHA12432162597601771
HP:0000541HP:0000541Retinal detachment2CYSLTR2 CL E G H5710539044ORPHA126218274605666
HP:0000541HP:0000541Retinal detachment2DAG1 CL E G H1605899ORPHA1113012666128239
HP:0000541HP:0000541Retinal detachment2FAS CL E G H3553437ORPHA114216911920134637
HP:0000541HP:0000541Retinal detachment2FBN1 CL E G H2200154700Marfan syndrome154700C0024796OMIM1272142843603134797
HP:0000541HP:0000541Retinal detachment2FKRP CL E G H79147899ORPHA114140217997606596
HP:0000541HP:0000541Retinal detachment2FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0000541HP:0000541Retinal detachment2FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114140217997606596
HP:0000541HP:0000541Retinal detachment2FKTN CL E G H2218899ORPHA1594503622607440
HP:0000541HP:0000541Retinal detachment2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000541HP:0000541Retinal detachment2FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1594503622607440
HP:0000541HP:0000541Retinal detachment2FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0000541HP:0000541Retinal detachment2GNA11 CL E G H276739044ORPHA111624379139313
HP:0000541HP:0000541Retinal detachment2GNAQ CL E G H277639044ORPHA16584390600998
HP:0000541HP:0000541Retinal detachment2IKBKG CL E G H8517308300Incontinentia pigmenti syndrome308300C0021171OMIM11512955961300248
HP:0000541HP:0000541Retinal detachment2ISPD CL E G H729920899ORPHA147537276614631
HP:0000541HP:0000541Retinal detachment2ISPD CL E G H729920614643Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7614643C3553330OMIM147537276614631
HP:0000541HP:0000541Retinal detachment2KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000541HP:0000541Retinal detachment2LARGE1 CL E G H9215899ORPHA1284066511603590
HP:0000541HP:0000541Retinal detachment2LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1284066511603590
HP:0000541HP:0000541Retinal detachment2LRP2 CL E G H4036222448Donnai Barrow syndrome222448C1857277OMIM1466006694600073
HP:0000541HP:0000541Retinal detachment2LRP2 CL E G H40362143Junctional epidermolysis bullosa inversaORPHA1466006694600073
HP:0000541HP:0000541Retinal detachment2LRP5 CL E G H40412788ORPHA12214116697603506
HP:0000541HP:0000541Retinal detachment2LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM12214116697603506
HP:0000541HP:0000541Retinal detachment2LTBP2 CL E G H405398976ORPHA1292996715602091
HP:0000541HP:0000541Retinal detachment2MYOC CL E G H465398976ORPHA11431037610601652
HP:0000541HP:0000541Retinal detachment2NDP CL E G H4693190ORPHA11672077678300658
HP:0000541HP:0000541Retinal detachment2NDP CL E G H4693649ORPHA11672077678300658
HP:0000541HP:0000541Retinal detachment2NDP CL E G H4693310600Atrophia bulborum hereditaria310600C0266526OMIM11672077678300658
HP:0000541HP:0000541Retinal detachment2NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM11672077678300658
HP:0000541HP:0000541Retinal detachment2NSMCE2 CL E G H286053617253Seckel syndrome 10617253C4310647OMIM125726513617246
HP:0000541HP:0000541Retinal detachment2PAX6 CL E G H5080120430Coloboma of optic disc120430C0155299OMIM15714968620607108
HP:0000541HP:0000541Retinal detachment2PLOD1 CL E G H53511900ORPHA1424409081153454
HP:0000541HP:0000541Retinal detachment2PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0000541HP:0000541Retinal detachment2POMGNT1 CL E G H55624899ORPHA18946119139606822
HP:0000541HP:0000541Retinal detachment2POMGNT2 CL E G H84892899ORPHA1919125902614828
HP:0000541HP:0000541Retinal detachment2POMK CL E G H84197899ORPHA1814826267615247
HP:0000541HP:0000541Retinal detachment2POMT1 CL E G H10585899ORPHA1965089202607423
HP:0000541HP:0000541Retinal detachment2POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1965089202607423
HP:0000541HP:0000541Retinal detachment2POMT2 CL E G H29954899ORPHA17550219743607439
HP:0000541HP:0000541Retinal detachment2POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17550219743607439
HP:0000541HP:0000541Retinal detachment2PTEN CL E G H57282969ORPHA165820199588601728
HP:0000541HP:0000541Retinal detachment2PTPN22 CL E G H261913437ORPHA114289652600716
HP:0000541HP:0000541Retinal detachment2RXYLT1 CL E G H10329899ORPHA1810613530605862
HP:0000541HP:0000541Retinal detachment2SF3B1 CL E G H2345139044ORPHA146410768605590
HP:0000541HP:0000541Retinal detachment2TEK CL E G H701098976ORPHA13521011724600221
HP:0000541HP:0000541Retinal detachment2TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317829944610083
HP:0000541HP:0000541Retinal detachment2TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1748418127610053
HP:0000541HP:0000541Retinal detachment2XYLT2 CL E G H6413285194ORPHA1135715517608125
HP:0000541HP:0000541Retinal detachment2XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM1135715517608125
HP:0000541HP:0000541Retinal detachment2ZNF408 CL E G H79797616468Exudative vitreoretinopathy 6616468C4225316OMIM11411220041616454
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000541HP:0000541Retinal detachment0ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM02718019706610113
HP:0000541HP:0000541Retinal detachment0ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM025138409600463
HP:0000541HP:0000541Retinal detachment0BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA05541520893300485
HP:0000541HP:0000541Retinal detachment0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM05541520893300485
HP:0000541HP:0000541Retinal detachment0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM01854081393300110
HP:0000541HP:0000541Retinal detachment0CBS CL E G H875394ORPHA02146111550613381
HP:0000541HP:0000541Retinal detachment0CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM02118229861300350
HP:0000541HP:0000541Retinal detachment0COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0000541HP:0000541Retinal detachment0COL2A1 CL E G H128094068ORPHA05707312200120140
HP:0000541HP:0000541Retinal detachment0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0000541HP:0000541Retinal detachment0COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0000541HP:0000541Retinal detachment0COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0000541HP:0000541Retinal detachment0DEAF1 CL E G H10522819ORPHA01712914677602635
HP:0000541HP:0000541Retinal detachment0FBN1 CL E G H22002833ORPHA0272142843603134797
HP:0000541HP:0000541Retinal detachment0FLII CL E G H2314819ORPHA021533750600362
HP:0000541HP:0000541Retinal detachment0GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000541HP:0000541Retinal detachment0GZF1 CL E G H64412617662JOINT LAXITY, SHORT STATURE, AND MYOPIA617662C4540020OMIM022515808613842
HP:0000541HP:0000541Retinal detachment0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA077164931142800
HP:0000541HP:0000541Retinal detachment0IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0000541HP:0000541Retinal detachment0IQSEC2 CL E G H23096819ORPHA05753929059300522
HP:0000541HP:0000541Retinal detachment0KIF11 CL E G H38322526ORPHA0701726388148760
HP:0000541HP:0000541Retinal detachment0MAF CL E G H4094610202Cataract 21, multiple types610202C3888097OMIM0221726776177075
HP:0000541HP:0000541Retinal detachment0NHS CL E G H4810627ORPHA0523537820300457
HP:0000541HP:0000541Retinal detachment0NSMCE2 CL E G H286053436182ORPHA025726513617246
HP:0000541HP:0000541Retinal detachment0P3H2 CL E G H55214614292Myopia, high, with cataract and vitreoretinal degeneration614292C3280346OMIM0814319317610341
HP:0000541HP:0000541Retinal detachment0PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM098938616167409
HP:0000541HP:0000541Retinal detachment0PAX6 CL E G H508035737ORPHA05714968620607108
HP:0000541HP:0000541Retinal detachment0PRDM5 CL E G H1110790354ORPHA0131319349614161
HP:0000541HP:0000541Retinal detachment0RAI1 CL E G H10743819ORPHA01164049834607642
HP:0000541HP:0000541Retinal detachment0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM01164049834607642
HP:0000541HP:0000541Retinal detachment0RS1 CL E G H6247312700Juvenile retinoschisis312700C0271091OMIM027945410457300839
HP:0000541HP:0000541Retinal detachment0SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM0115910892606326
HP:0000541HP:0000541Retinal detachment0TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM039812406601197
HP:0000541HP:0000541Retinal detachment0VHL CL E G H7428892Billet Bear syndromeORPHA0617109712687608537
HP:0000541HP:0000541Retinal detachment0XRCC4 CL E G H7518436182ORPHA0153712831194363
HP:0000541HP:0000541Retinal detachment0YAP1 CL E G H104131473Congenital articular rigidityORPHA0123816262606608
HP:0000541HP:0000541Retinal detachment0ZNF469 CL E G H8462790354ORPHA06964123216612078
HP:0000541HP:0000541Retinal detachment1ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM02718019706610113
HP:0000541HP:0000541Retinal detachment1ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM025138409600463
HP:0000541HP:0000541Retinal detachment1BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA05541520893300485
HP:0000541HP:0000541Retinal detachment1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM05541520893300485
HP:0000541HP:0000541Retinal detachment1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM01854081393300110
HP:0000541HP:0000541Retinal detachment1CBS CL E G H875394ORPHA02146111550613381
HP:0000541HP:0000541Retinal detachment1CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM02118229861300350
HP:0000541HP:0000541Retinal detachment1COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0000541HP:0000541Retinal detachment1COL2A1 CL E G H128094068ORPHA05707312200120140
HP:0000541HP:0000541Retinal detachment1COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0000541HP:0000541Retinal detachment1COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0000541HP:0000541Retinal detachment1COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0000541HP:0000541Retinal detachment1DEAF1 CL E G H10522819ORPHA01712914677602635
HP:0000541HP:0000541Retinal detachment1FBN1 CL E G H22002833ORPHA0272142843603134797
HP:0000541HP:0000541Retinal detachment1FLII CL E G H2314819ORPHA021533750600362
HP:0000541HP:0000541Retinal detachment1GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000541HP:0000541Retinal detachment1GZF1 CL E G H64412617662JOINT LAXITY, SHORT STATURE, AND MYOPIA617662C4540020OMIM022515808613842
HP:0000541HP:0000541Retinal detachment1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA077164931142800
HP:0000541HP:0000541Retinal detachment1IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0000541HP:0000541Retinal detachment1IQSEC2 CL E G H23096819ORPHA05753929059300522
HP:0000541HP:0000541Retinal detachment1KIF11 CL E G H38322526ORPHA0701726388148760
HP:0000541HP:0000541Retinal detachment1MAF CL E G H4094610202Cataract 21, multiple types610202C3888097OMIM0221726776177075
HP:0000541HP:0000541Retinal detachment1NHS CL E G H4810627ORPHA0523537820300457
HP:0000541HP:0000541Retinal detachment1NSMCE2 CL E G H286053436182ORPHA025726513617246
HP:0000541HP:0000541Retinal detachment1P3H2 CL E G H55214614292Myopia, high, with cataract and vitreoretinal degeneration614292C3280346OMIM0814319317610341
HP:0000541HP:0000541Retinal detachment1PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM098938616167409
HP:0000541HP:0000541Retinal detachment1PAX6 CL E G H508035737ORPHA05714968620607108
HP:0000541HP:0000541Retinal detachment1PRDM5 CL E G H1110790354ORPHA0131319349614161
HP:0000541HP:0000541Retinal detachment1RAI1 CL E G H10743819ORPHA01164049834607642
HP:0000541HP:0000541Retinal detachment1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM01164049834607642
HP:0000541HP:0000541Retinal detachment1RS1 CL E G H6247312700Juvenile retinoschisis312700C0271091OMIM027945410457300839
HP:0000541HP:0000541Retinal detachment1SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM0115910892606326
HP:0000541HP:0000541Retinal detachment1TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM039812406601197
HP:0000541HP:0000541Retinal detachment1VHL CL E G H7428892Billet Bear syndromeORPHA0617109712687608537
HP:0000541HP:0000541Retinal detachment1XRCC4 CL E G H7518436182ORPHA0153712831194363
HP:0000541HP:0000541Retinal detachment1YAP1 CL E G H104131473Congenital articular rigidityORPHA0123816262606608
HP:0000541HP:0000541Retinal detachment1ZNF469 CL E G H8462790354ORPHA06964123216612078
HP:0000541HP:0000541Retinal detachment2ADAMTSL4 CL E G H54507225200Ectopia lentis et pupillae225200C1644196OMIM02718019706610113
HP:0000541HP:0000541Retinal detachment2ALDH1A3 CL E G H220615113Microphthalmia, isolated 8615113C3554524OMIM025138409600463
HP:0000541HP:0000541Retinal detachment2BCOR CL E G H548802712HMG CoA synthetase deficiencyCN072869ORPHA05541520893300485
HP:0000541HP:0000541Retinal detachment2BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM05541520893300485
HP:0000541HP:0000541Retinal detachment2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM01854081393300110
HP:0000541HP:0000541Retinal detachment2CBS CL E G H875394ORPHA02146111550613381
HP:0000541HP:0000541Retinal detachment2CHRDL1 CL E G H91851309300Megalocornea309300C0344530OMIM02118229861300350
HP:0000541HP:0000541Retinal detachment2COL1A1 CL E G H1277287ORPHA096711052197120150
HP:0000541HP:0000541Retinal detachment2COL2A1 CL E G H128094068ORPHA05707312200120140
HP:0000541HP:0000541Retinal detachment2COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0000541HP:0000541Retinal detachment2COL5A1 CL E G H1289287ORPHA015916302209120215
HP:0000541HP:0000541Retinal detachment2COL5A2 CL E G H1290287ORPHA0397932210120190
HP:0000541HP:0000541Retinal detachment2DEAF1 CL E G H10522819ORPHA01712914677602635
HP:0000541HP:0000541Retinal detachment2FBN1 CL E G H22002833ORPHA0272142843603134797
HP:0000541HP:0000541Retinal detachment2FLII CL E G H2314819ORPHA021533750600362
HP:0000541HP:0000541Retinal detachment2GNAQ CL E G H27763205LBWD syndromeORPHA06584390600998
HP:0000541HP:0000541Retinal detachment2GZF1 CL E G H64412617662JOINT LAXITY, SHORT STATURE, AND MYOPIA617662C4540020OMIM022515808613842
HP:0000541HP:0000541Retinal detachment2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA077164931142800
HP:0000541HP:0000541Retinal detachment2IKBKG CL E G H8517464Achromatopsia incomplete X-linkedCN036572ORPHA01512955961300248
HP:0000541HP:0000541Retinal detachment2IQSEC2 CL E G H23096819ORPHA05753929059300522
HP:0000541HP:0000541Retinal detachment2KIF11 CL E G H38322526ORPHA0701726388148760
HP:0000541HP:0000541Retinal detachment2MAF CL E G H4094610202Cataract 21, multiple types610202C3888097OMIM0221726776177075
HP:0000541HP:0000541Retinal detachment2NHS CL E G H4810627ORPHA0523537820300457
HP:0000541HP:0000541Retinal detachment2NSMCE2 CL E G H286053436182ORPHA025726513617246
HP:0000541HP:0000541Retinal detachment2P3H2 CL E G H55214614292Myopia, high, with cataract and vitreoretinal degeneration614292C3280346OMIM0814319317610341
HP:0000541HP:0000541Retinal detachment2PAX2 CL E G H5076120330Renal coloboma syndrome120330C1852759OMIM098938616167409
HP:0000541HP:0000541Retinal detachment2PAX6 CL E G H508035737ORPHA05714968620607108
HP:0000541HP:0000541Retinal detachment2PRDM5 CL E G H1110790354ORPHA0131319349614161
HP:0000541HP:0000541Retinal detachment2RAI1 CL E G H10743819ORPHA01164049834607642
HP:0000541HP:0000541Retinal detachment2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM01164049834607642
HP:0000541HP:0000541Retinal detachment2RS1 CL E G H6247312700Juvenile retinoschisis312700C0271091OMIM027945410457300839
HP:0000541HP:0000541Retinal detachment2SIX6 CL E G H4990212550Cataract, microphthalmia and nystagmus212550C1859311OMIM0115910892606326
HP:0000541HP:0000541Retinal detachment2TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM039812406601197
HP:0000541HP:0000541Retinal detachment2VHL CL E G H7428892Billet Bear syndromeORPHA0617109712687608537
HP:0000541HP:0000541Retinal detachment2XRCC4 CL E G H7518436182ORPHA0153712831194363
HP:0000541HP:0000541Retinal detachment2YAP1 CL E G H104131473Congenital articular rigidityORPHA0123816262606608
HP:0000541HP:0000541Retinal detachment2ZNF469 CL E G H8462790354ORPHA06964123216612078


Genes (88) :ADAMTSL1 ADAMTSL4 AKT1 ALDH1A3 ARL6IP6 ATOH7 B3GALNT2 B4GAT1 BAP1 BCOR BEST1 CACNA1F CAPN5 CBS CHRDL1 CHST14 COL11A1 COL18A1 COL1A1 COL2A1 COL4A1 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 CRPPA CYP1B1 CYSLTR2 DAG1 DEAF1 FAS FBN1 FKRP FKTN FLII FRG1 FZD4 GNA11 GNAQ GZF1 HLA-A IGFBP7 IKBKG IMPG1 IMPG2 IQSEC2 ISPD KIF11 LARGE1 LRP2 LRP5 LTBP2 MAF MYOC NDP NHS NSMCE2 P3H2 PAX2 PAX6 PLOD1 POMGNT1 POMGNT2 POMK POMT1 POMT2 PRDM5 PRPH2 PTEN PTPN22 RAI1 RS1 RXYLT1 SF3B1 SIX6 TEK TENM3 TSPAN12 TUB TUBGCP6 VCAN VHL XRCC4 XYLT2 YAP1 ZNF408 ZNF469

Diseases (90) :521445 225200 615113 1556 899 615181 39044 2712 300166 613194 193220 300476 193235 394 309300 601776 90654 560 250984 154780 604841 1571 267750 287 485 94068 90653 93346 156550 183900 108300 607595 614284 614643 98976 819 3437 2833 154700 613153 236670 253800 133780 3205 617662 179 464 308300 2526 152950 222448 2143 2788 610202 190 649 310600 305390 627 436182 617253 614292 120330 35737 120430 1900 225400 90354 2969 182290 312700 212550 615145 616188 251270 892 85194 605822 1473 616468 744 221900 99000 609508 158900 90050 614224 601813 613310 143200
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.