Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of vision (HP:0000504)help
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Reduced visual acuity (HP:0007663)help
Term ID: 7663
Name: Reduced visual acuity
Synonym: Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity
Definition:
Comments:
Reference: HP:0007663
Genes and Diseases:
 
       Child Nodes:
........expandAmblyopia (HP:0000646) help
........expandSudden loss of visual acuity (HP:0001117) help
........expandVisual acuity test abnormality (HP:0030532) help
................... HP:0030533 Abnormal unaided visual acuity test
................... HP:0030534 Abnormal best corrected visual acuity test
................... HP:0030535 Abnormal pinhole visual acuity test
................... HP:0030551 Visual acuity light perception with projection
................... HP:0030552 Visual acuity light perception without projection
................... HP:0030553 Visual acuity no light perception

 Sister Nodes: 
..expandAbnormality of binocular vision (HP:0011514) help
..expandAmaurosis fugax (HP:0100576) help
..expandBlurred vision (HP:0000622) help
..expandBradyopsia (HP:0030511) help
..expandColor vision defect (HP:0000551) help
..expandDifficulty adjusting to changes in luminance (HP:0030512) help
..expandHemeralopia (HP:0012047) help
..expandMetamorphopsia (HP:0012508) help
..expandNyctalopia (HP:0000662) help
..expandPhotophobia (HP:0000613) help
..expandPhotopsia (HP:0030786) help
..expandPoor visual behavior for age (HP:0025152) help
..expandVisual field defect (HP:0001123) help
..expandVisual impairment (HP:0000505) help
..expandVisual loss (HP:0000572) help
..expandVitreous floaters (HP:0100832) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0007663HP:0007663Reduced visual acuity0ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280151134601691
HP:0007663HP:0007663Reduced visual acuity0ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA11280151134601691
HP:0007663HP:0007663Reduced visual acuity0ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM138082157603234
HP:0007663HP:0007663Reduced visual acuity0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138082157603234
HP:0007663HP:0007663Reduced visual acuity0ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM119185118100850
HP:0007663HP:0007663Reduced visual acuity0AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM179232359604392
HP:0007663HP:0007663Reduced visual acuity0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0007663HP:0007663Reduced visual acuity0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0007663HP:0007663Reduced visual acuity0ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1715117090616432
HP:0007663HP:0007663Reduced visual acuity0ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM153517146615407
HP:0007663HP:0007663Reduced visual acuity0ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM1333694604695
HP:0007663HP:0007663Reduced visual acuity0BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0007663HP:0007663Reduced visual acuity0C12orf65 CL E G H91574320375ORPHA11111426784613541
HP:0007663HP:0007663Reduced visual acuity0C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM11711927232614477
HP:0007663HP:0007663Reduced visual acuity0CABP4 CL E G H57010215Rudd Klimek syndromeORPHA1131941386608965
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778178333ORPHA11854081393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11854081393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM11854081393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778215Rudd Klimek syndromeORPHA11854081393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM1939120202608171
HP:0007663HP:0007663Reduced visual acuity0CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA1939120202608171
HP:0007663HP:0007663Reduced visual acuity0CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM131088429021610142
HP:0007663HP:0007663Reduced visual acuity0CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13917512605606397
HP:0007663HP:0007663Reduced visual acuity0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11264102153605080
HP:0007663HP:0007663Reduced visual acuity0DRAM2 CL E G H128338616502Cone-rod dystrophy 21616502CN231743OMIM1104028769613360
HP:0007663HP:0007663Reduced visual acuity0DTNBP1 CL E G H84062614076Hermansky-Pudlak syndrome 7614076C3279756OMIM157317328607145
HP:0007663HP:0007663Reduced visual acuity0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11712214415605512
HP:0007663HP:0007663Reduced visual acuity0ELOVL4 CL E G H6785600110Stargardt Disease 3600110C1838644OMIM11712214415605512
HP:0007663HP:0007663Reduced visual acuity0FBN2 CL E G H2201616118Macular degeneration, early-onset616118C4015286OMIM111314023604612570
HP:0007663HP:0007663Reduced visual acuity0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1952628079300628
HP:0007663HP:0007663Reduced visual acuity0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0007663HP:0007663Reduced visual acuity0GNAT1 CL E G H2779215Rudd Klimek syndromeORPHA110874393139330
HP:0007663HP:0007663Reduced visual acuity0GNB3 CL E G H2784215Rudd Klimek syndromeORPHA19864400139130
HP:0007663HP:0007663Reduced visual acuity0GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM11623131371614515
HP:0007663HP:0007663Reduced visual acuity0GPR179 CL E G H440435215Rudd Klimek syndromeORPHA11623131371614515
HP:0007663HP:0007663Reduced visual acuity0GRHL2 CL E G H79977618031CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4618031CN248531OMIM113962799608576
HP:0007663HP:0007663Reduced visual acuity0GRK1 CL E G H6011215Rudd Klimek syndromeORPHA1237610013180381
HP:0007663HP:0007663Reduced visual acuity0GRM6 CL E G H2916215Rudd Klimek syndromeORPHA1382264598604096
HP:0007663HP:0007663Reduced visual acuity0GUCA1A CL E G H2978602093Cone dystrophy 3602093C1865869OMIM1231204678600364
HP:0007663HP:0007663Reduced visual acuity0GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM12433884689600179
HP:0007663HP:0007663Reduced visual acuity0HK1 CL E G H3098617460Retinitis pigmentosa 79617460C4479526OMIM19964922142600
HP:0007663HP:0007663Reduced visual acuity0HPS4 CL E G H89781614073Hermansky-Pudlak syndrome 4614073C3484357OMIM12321815844606682
HP:0007663HP:0007663Reduced visual acuity0HPS5 CL E G H11234614074Hermansky-Pudlak syndrome 5614074C3888004OMIM13117917022607521
HP:0007663HP:0007663Reduced visual acuity0HPS6 CL E G H79803614075Hermansky-Pudlak syndrome 6614075C3888007OMIM13710618817607522
HP:0007663HP:0007663Reduced visual acuity0IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM1241986052146690
HP:0007663HP:0007663Reduced visual acuity0IMPG2 CL E G H50939613581Retinitis pigmentosa 56613581C3150819OMIM14234618362607056
HP:0007663HP:0007663Reduced visual acuity0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM15432521474613037
HP:0007663HP:0007663Reduced visual acuity0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101096259603208
HP:0007663HP:0007663Reduced visual acuity0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM1158429508615759
HP:0007663HP:0007663Reduced visual acuity0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0007663HP:0007663Reduced visual acuity0KRT12 CL E G H3859122100Meesman's corneal dystrophy122100C0339277OMIM125356414601687
HP:0007663HP:0007663Reduced visual acuity0KRT3 CL E G H3850122100Meesman's corneal dystrophy122100C0339277OMIM14266440148043
HP:0007663HP:0007663Reduced visual acuity0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM1241586685604863
HP:0007663HP:0007663Reduced visual acuity0LRIT3 CL E G H345193215Rudd Klimek syndromeORPHA1914524783615004
HP:0007663HP:0007663Reduced visual acuity0LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM12214116697603506
HP:0007663HP:0007663Reduced visual acuity0LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM12214116697603506
HP:0007663HP:0007663Reduced visual acuity0LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM151186701104225
HP:0007663HP:0007663Reduced visual acuity0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0007663HP:0007663Reduced visual acuity0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM14896783159460
HP:0007663HP:0007663Reduced visual acuity0MAPKAPK3 CL E G H7867617111Macular dystrophy, patterned, 3617111C4310713OMIM11336888602130
HP:0007663HP:0007663Reduced visual acuity0MARK3 CL E G H4140618283618283618283OMIM12546897602678
HP:0007663HP:0007663Reduced visual acuity0MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM13125918121606227
HP:0007663HP:0007663Reduced visual acuity0MFSD8 CL E G H256471616170Macular dystrophy with central cone involvement616170C4015371OMIM14935028486611124
HP:0007663HP:0007663Reduced visual acuity0MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM141931555613146
HP:0007663HP:0007663Reduced visual acuity0MIR204 CL E G H406987616722Retinal dystrophy and iris coloboma with or without congenital cataract616722C4225233OMIM114331582610942
HP:0007663HP:0007663Reduced visual acuity0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0007663HP:0007663Reduced visual acuity0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0007663HP:0007663Reduced visual acuity0MMP19 CL E G H4327611543Cavitary optic disc anomalies611543C1969063OMIM14207165601807
HP:0007663HP:0007663Reduced visual acuity0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM14415615625608025
HP:0007663HP:0007663Reduced visual acuity0NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM11672077678300658
HP:0007663HP:0007663Reduced visual acuity0NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341237975132890
HP:0007663HP:0007663Reduced visual acuity0NYX CL E G H60506215Rudd Klimek syndromeORPHA1912568082300278
HP:0007663HP:0007663Reduced visual acuity0OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM13165388101611409
HP:0007663HP:0007663Reduced visual acuity0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0007663HP:0007663Reduced visual acuity0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13944418140605290
HP:0007663HP:0007663Reduced visual acuity0OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM13944418140605290
HP:0007663HP:0007663Reduced visual acuity0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM1153188142606580
HP:0007663HP:0007663Reduced visual acuity0OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM1153188142606580
HP:0007663HP:0007663Reduced visual acuity0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0007663HP:0007663Reduced visual acuity0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0007663HP:0007663Reduced visual acuity0PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0007663HP:0007663Reduced visual acuity0PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM15714968620607108
HP:0007663HP:0007663Reduced visual acuity0PDE6B CL E G H5158215Rudd Klimek syndromeORPHA11334748786180072
HP:0007663HP:0007663Reduced visual acuity0PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM1582208787600827
HP:0007663HP:0007663Reduced visual acuity0PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM12608790601190
HP:0007663HP:0007663Reduced visual acuity0PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM1730021043608921
HP:0007663HP:0007663Reduced visual acuity0POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM176530836614784
HP:0007663HP:0007663Reduced visual acuity0POMGNT1 CL E G H55624617123Retinitis pigmentosa 76617123C4310704OMIM18946119139606822
HP:0007663HP:0007663Reduced visual acuity0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1814826267615247
HP:0007663HP:0007663Reduced visual acuity0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0007663HP:0007663Reduced visual acuity0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0007663HP:0007663Reduced visual acuity0PRIMPOL CL E G H201973615420Myopia 22, autosomal dominant615420C3809464OMIM1210626575615421
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842612657Cone-rod dystrophy 12612657C2675210OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1833409454604365
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842603786Stargardt disease 4603786C1863534OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity0PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM117523215446606419
HP:0007663HP:0007663Reduced visual acuity0PRPF6 CL E G H24148613983Retinitis pigmentosa 60613983C3151434OMIM11117015860613979
HP:0007663HP:0007663Reduced visual acuity0PRPH2 CL E G H5961608161Macular dystrophy, vitelliform, adult-onset608161C1842914OMIM11813449942179605
HP:0007663HP:0007663Reduced visual acuity0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11813449942179605
HP:0007663HP:0007663Reduced visual acuity0PUF60 CL E G H22827508488ORPHA13212917042604819
HP:0007663HP:0007663Reduced visual acuity0RBP3 CL E G H5949615233Retinitis pigmentosa 66615233C3715216OMIM1183779921180290
HP:0007663HP:0007663Reduced visual acuity0RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM18479922180250
HP:0007663HP:0007663Reduced visual acuity0RCBTB1 CL E G H55213617175Retinal dystrophy with or without extraocular anomalies617175C4310680OMIM1911218243607867
HP:0007663HP:0007663Reduced visual acuity0REEP6 CL E G H92840617304Retinitis pigmentosa 77617304C4310626OMIM186930078609346
HP:0007663HP:0007663Reduced visual acuity0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11317930220611908
HP:0007663HP:0007663Reduced visual acuity0RHO CL E G H6010215Rudd Klimek syndromeORPHA121926710012180380
HP:0007663HP:0007663Reduced visual acuity0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0007663HP:0007663Reduced visual acuity0RPGR CL E G H6103300834Macular degeneration, X-linked atrophic300834C3151784OMIM124566210295312610
HP:0007663HP:0007663Reduced visual acuity0RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM114936113436605446
HP:0007663HP:0007663Reduced visual acuity0RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM1127418647610502
HP:0007663HP:0007663Reduced visual acuity0SAG CL E G H6295215Rudd Klimek syndromeORPHA11613210521181031
HP:0007663HP:0007663Reduced visual acuity0SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM134110526602219
HP:0007663HP:0007663Reduced visual acuity0SCAPER CL E G H49855618195INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA618195OMIM187113081611611
HP:0007663HP:0007663Reduced visual acuity0SH3BP2 CL E G H6452118400Fibrous dysplasia of jaw118400C0008029OMIM11641110825602104
HP:0007663HP:0007663Reduced visual acuity0SLC24A1 CL E G H9187215Rudd Klimek syndromeORPHA12618810975603617
HP:0007663HP:0007663Reduced visual acuity0SLC24A5 CL E G H283652370097ORPHA1264020611609802
HP:0007663HP:0007663Reduced visual acuity0SLC24A5 CL E G H283652113750Skin/hair/eye pigmentation, variation in, 4113750C2676042OMIM1264020611609802
HP:0007663HP:0007663Reduced visual acuity0SLC38A8 CL E G H146167609218Foveal hypoplasia 2609218C1836603OMIM11810932434615585
HP:0007663HP:0007663Reduced visual acuity0SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM1910320858608736
HP:0007663HP:0007663Reduced visual acuity0SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM19525016438610206
HP:0007663HP:0007663Reduced visual acuity0TACSTD2 CL E G H4070204870Lattice corneal dystrophy Type III204870C0339273OMIM1337011530137290
HP:0007663HP:0007663Reduced visual acuity0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317829944610083
HP:0007663HP:0007663Reduced visual acuity0TGFBI CL E G H7045607541Avellino corneal dystrophy607541C1275685OMIM17011911771601692
HP:0007663HP:0007663Reduced visual acuity0TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM17011911771601692
HP:0007663HP:0007663Reduced visual acuity0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0007663HP:0007663Reduced visual acuity0TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM117725382612988
HP:0007663HP:0007663Reduced visual acuity0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM1845307146603576
HP:0007663HP:0007663Reduced visual acuity0TRPM1 CL E G H4308215Rudd Klimek syndromeORPHA1845307146603576
HP:0007663HP:0007663Reduced visual acuity0TTC8 CL E G H123016613464Retinitis pigmentosa 51613464C3150715OMIM11612820087608132
HP:0007663HP:0007663Reduced visual acuity0TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM139812406601197
HP:0007663HP:0007663Reduced visual acuity0TUBA3D CL E G H113457617928KERATOCONUS 9617928CN244547OMIM124324071617878
HP:0007663HP:0007663Reduced visual acuity0TUBB4B CL E G H10383617879LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS617879CN807950OMIM137220771602660
HP:0007663HP:0007663Reduced visual acuity0TUBGCP4 CL E G H27229616335Microcephaly and chorioretinopathy, autosomal recessive, 3616335C4225362OMIM167916691609610
HP:0007663HP:0007663Reduced visual acuity0TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0007663HP:0007663Reduced visual acuity0TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM144522612442606933
HP:0007663HP:0007663Reduced visual acuity0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM135414583608549
HP:0007663HP:0007663Reduced visual acuity0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0007663HP:0007663Reduced visual acuity0WDR19 CL E G H57728616307Senior-Loken syndrome 8616307C4225376OMIM14529418340608151
HP:0007663HP:0007663Reduced visual acuity0ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524111642189909
HP:0007663HP:0007663Reduced visual acuity0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM14570020761612012
HP:0007663HP:0007663Reduced visual acuity0ZNF408 CL E G H79797616469Retinitis pigmentosa 72616469C4225315OMIM11411220041616454
HP:0007663HP:0007663Reduced visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280151134601691
HP:0007663HP:0007663Reduced visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA11280151134601691
HP:0007663HP:0007663Reduced visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM138082157603234
HP:0007663HP:0007663Reduced visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138082157603234
HP:0007663HP:0007663Reduced visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM119185118100850
HP:0007663HP:0007663Reduced visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM179232359604392
HP:0007663HP:0007663Reduced visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0007663HP:0007663Reduced visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0007663HP:0007663Reduced visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1715117090616432
HP:0007663HP:0007663Reduced visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM153517146615407
HP:0007663HP:0007663Reduced visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM1333694604695
HP:0007663HP:0007663Reduced visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0007663HP:0007663Reduced visual acuity1C12orf65 CL E G H91574320375ORPHA11111426784613541
HP:0007663HP:0007663Reduced visual acuity1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM11711927232614477
HP:0007663HP:0007663Reduced visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA1131941386608965
HP:0007663HP:0007663Reduced visual acuity1CACNA1F CL E G H778178333ORPHA11854081393300110
HP:0007663HP:0007663Reduced visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11854081393300110
HP:0007663HP:0007663Reduced visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM11854081393300110
HP:0007663HP:0007663Reduced visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA11854081393300110
HP:0007663HP:0007663Reduced visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM1939120202608171
HP:0007663HP:0007663Reduced visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA1939120202608171
HP:0007663HP:0007663Reduced visual acuity1CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM131088429021610142
HP:0007663HP:0007663Reduced visual acuity1CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13917512605606397
HP:0007663HP:0007663Reduced visual acuity1CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11264102153605080
HP:0007663HP:0007663Reduced visual acuity1DRAM2 CL E G H128338616502Cone-rod dystrophy 21616502CN231743OMIM1104028769613360
HP:0007663HP:0007663Reduced visual acuity1DTNBP1 CL E G H84062614076Hermansky-Pudlak syndrome 7614076C3279756OMIM157317328607145
HP:0007663HP:0007663Reduced visual acuity1ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11712214415605512
HP:0007663HP:0007663Reduced visual acuity1ELOVL4 CL E G H6785600110Stargardt Disease 3600110C1838644OMIM11712214415605512
HP:0007663HP:0007663Reduced visual acuity1FBN2 CL E G H2201616118Macular degeneration, early-onset616118C4015286OMIM111314023604612570
HP:0007663HP:0007663Reduced visual acuity1FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1952628079300628
HP:0007663HP:0007663Reduced visual acuity1FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0007663HP:0007663Reduced visual acuity1GNAT1 CL E G H2779215Rudd Klimek syndromeORPHA110874393139330
HP:0007663HP:0007663Reduced visual acuity1GNB3 CL E G H2784215Rudd Klimek syndromeORPHA19864400139130
HP:0007663HP:0007663Reduced visual acuity1GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM11623131371614515
HP:0007663HP:0007663Reduced visual acuity1GPR179 CL E G H440435215Rudd Klimek syndromeORPHA11623131371614515
HP:0007663HP:0007663Reduced visual acuity1GRHL2 CL E G H79977618031CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4618031CN248531OMIM113962799608576
HP:0007663HP:0007663Reduced visual acuity1GRK1 CL E G H6011215Rudd Klimek syndromeORPHA1237610013180381
HP:0007663HP:0007663Reduced visual acuity1GRM6 CL E G H2916215Rudd Klimek syndromeORPHA1382264598604096
HP:0007663HP:0007663Reduced visual acuity1GUCA1A CL E G H2978602093Cone dystrophy 3602093C1865869OMIM1231204678600364
HP:0007663HP:0007663Reduced visual acuity1GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM12433884689600179
HP:0007663HP:0007663Reduced visual acuity1HK1 CL E G H3098617460Retinitis pigmentosa 79617460C4479526OMIM19964922142600
HP:0007663HP:0007663Reduced visual acuity1HPS4 CL E G H89781614073Hermansky-Pudlak syndrome 4614073C3484357OMIM12321815844606682
HP:0007663HP:0007663Reduced visual acuity1HPS5 CL E G H11234614074Hermansky-Pudlak syndrome 5614074C3888004OMIM13117917022607521
HP:0007663HP:0007663Reduced visual acuity1HPS6 CL E G H79803614075Hermansky-Pudlak syndrome 6614075C3888007OMIM13710618817607522
HP:0007663HP:0007663Reduced visual acuity1IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM1241986052146690
HP:0007663HP:0007663Reduced visual acuity1IMPG2 CL E G H50939613581Retinitis pigmentosa 56613581C3150819OMIM14234618362607056
HP:0007663HP:0007663Reduced visual acuity1INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM15432521474613037
HP:0007663HP:0007663Reduced visual acuity1KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101096259603208
HP:0007663HP:0007663Reduced visual acuity1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM1158429508615759
HP:0007663HP:0007663Reduced visual acuity1KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0007663HP:0007663Reduced visual acuity1KRT12 CL E G H3859122100Meesman's corneal dystrophy122100C0339277OMIM125356414601687
HP:0007663HP:0007663Reduced visual acuity1KRT3 CL E G H3850122100Meesman's corneal dystrophy122100C0339277OMIM14266440148043
HP:0007663HP:0007663Reduced visual acuity1LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM1241586685604863
HP:0007663HP:0007663Reduced visual acuity1LRIT3 CL E G H345193215Rudd Klimek syndromeORPHA1914524783615004
HP:0007663HP:0007663Reduced visual acuity1LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM12214116697603506
HP:0007663HP:0007663Reduced visual acuity1LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM12214116697603506
HP:0007663HP:0007663Reduced visual acuity1LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM151186701104225
HP:0007663HP:0007663Reduced visual acuity1LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0007663HP:0007663Reduced visual acuity1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM14896783159460
HP:0007663HP:0007663Reduced visual acuity1MAPKAPK3 CL E G H7867617111Macular dystrophy, patterned, 3617111C4310713OMIM11336888602130
HP:0007663HP:0007663Reduced visual acuity1MARK3 CL E G H4140618283618283618283OMIM12546897602678
HP:0007663HP:0007663Reduced visual acuity1MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM13125918121606227
HP:0007663HP:0007663Reduced visual acuity1MFSD8 CL E G H256471616170Macular dystrophy with central cone involvement616170C4015371OMIM14935028486611124
HP:0007663HP:0007663Reduced visual acuity1MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM141931555613146
HP:0007663HP:0007663Reduced visual acuity1MIR204 CL E G H406987616722Retinal dystrophy and iris coloboma with or without congenital cataract616722C4225233OMIM114331582610942
HP:0007663HP:0007663Reduced visual acuity1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0007663HP:0007663Reduced visual acuity1MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0007663HP:0007663Reduced visual acuity1MMP19 CL E G H4327611543Cavitary optic disc anomalies611543C1969063OMIM14207165601807
HP:0007663HP:0007663Reduced visual acuity1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM14415615625608025
HP:0007663HP:0007663Reduced visual acuity1NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM11672077678300658
HP:0007663HP:0007663Reduced visual acuity1NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341237975132890
HP:0007663HP:0007663Reduced visual acuity1NYX CL E G H60506215Rudd Klimek syndromeORPHA1912568082300278
HP:0007663HP:0007663Reduced visual acuity1OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM13165388101611409
HP:0007663HP:0007663Reduced visual acuity1OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0007663HP:0007663Reduced visual acuity1OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13944418140605290
HP:0007663HP:0007663Reduced visual acuity1OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM13944418140605290
HP:0007663HP:0007663Reduced visual acuity1OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM1153188142606580
HP:0007663HP:0007663Reduced visual acuity1OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM1153188142606580
HP:0007663HP:0007663Reduced visual acuity1OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0007663HP:0007663Reduced visual acuity1OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0007663HP:0007663Reduced visual acuity1PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0007663HP:0007663Reduced visual acuity1PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM15714968620607108
HP:0007663HP:0007663Reduced visual acuity1PDE6B CL E G H5158215Rudd Klimek syndromeORPHA11334748786180072
HP:0007663HP:0007663Reduced visual acuity1PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM1582208787600827
HP:0007663HP:0007663Reduced visual acuity1PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM12608790601190
HP:0007663HP:0007663Reduced visual acuity1PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM1730021043608921
HP:0007663HP:0007663Reduced visual acuity1POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM176530836614784
HP:0007663HP:0007663Reduced visual acuity1POMGNT1 CL E G H55624617123Retinitis pigmentosa 76617123C4310704OMIM18946119139606822
HP:0007663HP:0007663Reduced visual acuity1POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1814826267615247
HP:0007663HP:0007663Reduced visual acuity1PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0007663HP:0007663Reduced visual acuity1PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0007663HP:0007663Reduced visual acuity1PRIMPOL CL E G H201973615420Myopia 22, autosomal dominant615420C3809464OMIM1210626575615421
HP:0007663HP:0007663Reduced visual acuity1PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity1PROM1 CL E G H8842612657Cone-rod dystrophy 12612657C2675210OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity1PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1833409454604365
HP:0007663HP:0007663Reduced visual acuity1PROM1 CL E G H8842603786Stargardt disease 4603786C1863534OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity1PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM117523215446606419
HP:0007663HP:0007663Reduced visual acuity1PRPF6 CL E G H24148613983Retinitis pigmentosa 60613983C3151434OMIM11117015860613979
HP:0007663HP:0007663Reduced visual acuity1PRPH2 CL E G H5961608161Macular dystrophy, vitelliform, adult-onset608161C1842914OMIM11813449942179605
HP:0007663HP:0007663Reduced visual acuity1PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11813449942179605
HP:0007663HP:0007663Reduced visual acuity1PUF60 CL E G H22827508488ORPHA13212917042604819
HP:0007663HP:0007663Reduced visual acuity1RBP3 CL E G H5949615233Retinitis pigmentosa 66615233C3715216OMIM1183779921180290
HP:0007663HP:0007663Reduced visual acuity1RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM18479922180250
HP:0007663HP:0007663Reduced visual acuity1RCBTB1 CL E G H55213617175Retinal dystrophy with or without extraocular anomalies617175C4310680OMIM1911218243607867
HP:0007663HP:0007663Reduced visual acuity1REEP6 CL E G H92840617304Retinitis pigmentosa 77617304C4310626OMIM186930078609346
HP:0007663HP:0007663Reduced visual acuity1RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11317930220611908
HP:0007663HP:0007663Reduced visual acuity1RHO CL E G H6010215Rudd Klimek syndromeORPHA121926710012180380
HP:0007663HP:0007663Reduced visual acuity1RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0007663HP:0007663Reduced visual acuity1RPGR CL E G H6103300834Macular degeneration, X-linked atrophic300834C3151784OMIM124566210295312610
HP:0007663HP:0007663Reduced visual acuity1RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM114936113436605446
HP:0007663HP:0007663Reduced visual acuity1RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM1127418647610502
HP:0007663HP:0007663Reduced visual acuity1SAG CL E G H6295215Rudd Klimek syndromeORPHA11613210521181031
HP:0007663HP:0007663Reduced visual acuity1SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM134110526602219
HP:0007663HP:0007663Reduced visual acuity1SCAPER CL E G H49855618195INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA618195OMIM187113081611611
HP:0007663HP:0007663Reduced visual acuity1SH3BP2 CL E G H6452118400Fibrous dysplasia of jaw118400C0008029OMIM11641110825602104
HP:0007663HP:0007663Reduced visual acuity1SLC24A1 CL E G H9187215Rudd Klimek syndromeORPHA12618810975603617
HP:0007663HP:0007663Reduced visual acuity1SLC24A5 CL E G H283652370097ORPHA1264020611609802
HP:0007663HP:0007663Reduced visual acuity1SLC24A5 CL E G H283652113750Skin/hair/eye pigmentation, variation in, 4113750C2676042OMIM1264020611609802
HP:0007663HP:0007663Reduced visual acuity1SLC38A8 CL E G H146167609218Foveal hypoplasia 2609218C1836603OMIM11810932434615585
HP:0007663HP:0007663Reduced visual acuity1SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM1910320858608736
HP:0007663HP:0007663Reduced visual acuity1SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM19525016438610206
HP:0007663HP:0007663Reduced visual acuity1TACSTD2 CL E G H4070204870Lattice corneal dystrophy Type III204870C0339273OMIM1337011530137290
HP:0007663HP:0007663Reduced visual acuity1TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317829944610083
HP:0007663HP:0007663Reduced visual acuity1TGFBI CL E G H7045607541Avellino corneal dystrophy607541C1275685OMIM17011911771601692
HP:0007663HP:0007663Reduced visual acuity1TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM17011911771601692
HP:0007663HP:0007663Reduced visual acuity1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0007663HP:0007663Reduced visual acuity1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM117725382612988
HP:0007663HP:0007663Reduced visual acuity1TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM1845307146603576
HP:0007663HP:0007663Reduced visual acuity1TRPM1 CL E G H4308215Rudd Klimek syndromeORPHA1845307146603576
HP:0007663HP:0007663Reduced visual acuity1TTC8 CL E G H123016613464Retinitis pigmentosa 51613464C3150715OMIM11612820087608132
HP:0007663HP:0007663Reduced visual acuity1TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM139812406601197
HP:0007663HP:0007663Reduced visual acuity1TUBA3D CL E G H113457617928KERATOCONUS 9617928CN244547OMIM124324071617878
HP:0007663HP:0007663Reduced visual acuity1TUBB4B CL E G H10383617879LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS617879CN807950OMIM137220771602660
HP:0007663HP:0007663Reduced visual acuity1TUBGCP4 CL E G H27229616335Microcephaly and chorioretinopathy, autosomal recessive, 3616335C4225362OMIM167916691609610
HP:0007663HP:0007663Reduced visual acuity1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0007663HP:0007663Reduced visual acuity1TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM144522612442606933
HP:0007663HP:0007663Reduced visual acuity1VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM135414583608549
HP:0007663HP:0007663Reduced visual acuity1VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0007663HP:0007663Reduced visual acuity1WDR19 CL E G H57728616307Senior-Loken syndrome 8616307C4225376OMIM14529418340608151
HP:0007663HP:0007663Reduced visual acuity1ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524111642189909
HP:0007663HP:0007663Reduced visual acuity1ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM14570020761612012
HP:0007663HP:0007663Reduced visual acuity1ZNF408 CL E G H79797616469Retinitis pigmentosa 72616469C4225315OMIM11411220041616454
HP:0007663HP:0007663Reduced visual acuity2ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280151134601691
HP:0007663HP:0007663Reduced visual acuity2ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA11280151134601691
HP:0007663HP:0007663Reduced visual acuity2ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM138082157603234
HP:0007663HP:0007663Reduced visual acuity2ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138082157603234
HP:0007663HP:0007663Reduced visual acuity2ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM119185118100850
HP:0007663HP:0007663Reduced visual acuity2AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM179232359604392
HP:0007663HP:0007663Reduced visual acuity2AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0007663HP:0007663Reduced visual acuity2AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0007663HP:0007663Reduced visual acuity2ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1715117090616432
HP:0007663HP:0007663Reduced visual acuity2ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM153517146615407
HP:0007663HP:0007663Reduced visual acuity2ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM1333694604695
HP:0007663HP:0007663Reduced visual acuity2BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity2BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity2BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity2BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0007663HP:0007663Reduced visual acuity2C12orf65 CL E G H91574320375ORPHA11111426784613541
HP:0007663HP:0007663Reduced visual acuity2C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM11711927232614477
HP:0007663HP:0007663Reduced visual acuity2CABP4 CL E G H57010215Rudd Klimek syndromeORPHA1131941386608965
HP:0007663HP:0007663Reduced visual acuity2CACNA1F CL E G H778178333ORPHA11854081393300110
HP:0007663HP:0007663Reduced visual acuity2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11854081393300110
HP:0007663HP:0007663Reduced visual acuity2CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM11854081393300110
HP:0007663HP:0007663Reduced visual acuity2CACNA1F CL E G H778215Rudd Klimek syndromeORPHA11854081393300110
HP:0007663HP:0007663Reduced visual acuity2CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM1939120202608171
HP:0007663HP:0007663Reduced visual acuity2CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA1939120202608171
HP:0007663HP:0007663Reduced visual acuity2CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM131088429021610142
HP:0007663HP:0007663Reduced visual acuity2CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13917512605606397
HP:0007663HP:0007663Reduced visual acuity2CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11264102153605080
HP:0007663HP:0007663Reduced visual acuity2DRAM2 CL E G H128338616502Cone-rod dystrophy 21616502CN231743OMIM1104028769613360
HP:0007663HP:0007663Reduced visual acuity2DTNBP1 CL E G H84062614076Hermansky-Pudlak syndrome 7614076C3279756OMIM157317328607145
HP:0007663HP:0007663Reduced visual acuity2ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11712214415605512
HP:0007663HP:0007663Reduced visual acuity2ELOVL4 CL E G H6785600110Stargardt Disease 3600110C1838644OMIM11712214415605512
HP:0007663HP:0007663Reduced visual acuity2FBN2 CL E G H2201616118Macular degeneration, early-onset616118C4015286OMIM111314023604612570
HP:0007663HP:0007663Reduced visual acuity2FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1952628079300628
HP:0007663HP:0007663Reduced visual acuity2FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0007663HP:0007663Reduced visual acuity2GNAT1 CL E G H2779215Rudd Klimek syndromeORPHA110874393139330
HP:0007663HP:0007663Reduced visual acuity2GNB3 CL E G H2784215Rudd Klimek syndromeORPHA19864400139130
HP:0007663HP:0007663Reduced visual acuity2GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM11623131371614515
HP:0007663HP:0007663Reduced visual acuity2GPR179 CL E G H440435215Rudd Klimek syndromeORPHA11623131371614515
HP:0007663HP:0007663Reduced visual acuity2GRHL2 CL E G H79977618031CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4618031CN248531OMIM113962799608576
HP:0007663HP:0007663Reduced visual acuity2GRK1 CL E G H6011215Rudd Klimek syndromeORPHA1237610013180381
HP:0007663HP:0007663Reduced visual acuity2GRM6 CL E G H2916215Rudd Klimek syndromeORPHA1382264598604096
HP:0007663HP:0007663Reduced visual acuity2GUCA1A CL E G H2978602093Cone dystrophy 3602093C1865869OMIM1231204678600364
HP:0007663HP:0007663Reduced visual acuity2GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM12433884689600179
HP:0007663HP:0007663Reduced visual acuity2HK1 CL E G H3098617460Retinitis pigmentosa 79617460C4479526OMIM19964922142600
HP:0007663HP:0007663Reduced visual acuity2HPS4 CL E G H89781614073Hermansky-Pudlak syndrome 4614073C3484357OMIM12321815844606682
HP:0007663HP:0007663Reduced visual acuity2HPS5 CL E G H11234614074Hermansky-Pudlak syndrome 5614074C3888004OMIM13117917022607521
HP:0007663HP:0007663Reduced visual acuity2HPS6 CL E G H79803614075Hermansky-Pudlak syndrome 6614075C3888007OMIM13710618817607522
HP:0007663HP:0007663Reduced visual acuity2IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM1241986052146690
HP:0007663HP:0007663Reduced visual acuity2IMPG2 CL E G H50939613581Retinitis pigmentosa 56613581C3150819OMIM14234618362607056
HP:0007663HP:0007663Reduced visual acuity2INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM15432521474613037
HP:0007663HP:0007663Reduced visual acuity2KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101096259603208
HP:0007663HP:0007663Reduced visual acuity2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM1158429508615759
HP:0007663HP:0007663Reduced visual acuity2KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0007663HP:0007663Reduced visual acuity2KRT12 CL E G H3859122100Meesman's corneal dystrophy122100C0339277OMIM125356414601687
HP:0007663HP:0007663Reduced visual acuity2KRT3 CL E G H3850122100Meesman's corneal dystrophy122100C0339277OMIM14266440148043
HP:0007663HP:0007663Reduced visual acuity2LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM1241586685604863
HP:0007663HP:0007663Reduced visual acuity2LRIT3 CL E G H345193215Rudd Klimek syndromeORPHA1914524783615004
HP:0007663HP:0007663Reduced visual acuity2LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM12214116697603506
HP:0007663HP:0007663Reduced visual acuity2LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM12214116697603506
HP:0007663HP:0007663Reduced visual acuity2LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM151186701104225
HP:0007663HP:0007663Reduced visual acuity2LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0007663HP:0007663Reduced visual acuity2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM14896783159460
HP:0007663HP:0007663Reduced visual acuity2MAPKAPK3 CL E G H7867617111Macular dystrophy, patterned, 3617111C4310713OMIM11336888602130
HP:0007663HP:0007663Reduced visual acuity2MARK3 CL E G H4140618283618283618283OMIM12546897602678
HP:0007663HP:0007663Reduced visual acuity2MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM13125918121606227
HP:0007663HP:0007663Reduced visual acuity2MFSD8 CL E G H256471616170Macular dystrophy with central cone involvement616170C4015371OMIM14935028486611124
HP:0007663HP:0007663Reduced visual acuity2MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM141931555613146
HP:0007663HP:0007663Reduced visual acuity2MIR204 CL E G H406987616722Retinal dystrophy and iris coloboma with or without congenital cataract616722C4225233OMIM114331582610942
HP:0007663HP:0007663Reduced visual acuity2MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0007663HP:0007663Reduced visual acuity2MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0007663HP:0007663Reduced visual acuity2MMP19 CL E G H4327611543Cavitary optic disc anomalies611543C1969063OMIM14207165601807
HP:0007663HP:0007663Reduced visual acuity2NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM14415615625608025
HP:0007663HP:0007663Reduced visual acuity2NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM11672077678300658
HP:0007663HP:0007663Reduced visual acuity2NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341237975132890
HP:0007663HP:0007663Reduced visual acuity2NYX CL E G H60506215Rudd Klimek syndromeORPHA1912568082300278
HP:0007663HP:0007663Reduced visual acuity2OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM13165388101611409
HP:0007663HP:0007663Reduced visual acuity2OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0007663HP:0007663Reduced visual acuity2OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13944418140605290
HP:0007663HP:0007663Reduced visual acuity2OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM13944418140605290
HP:0007663HP:0007663Reduced visual acuity2OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM1153188142606580
HP:0007663HP:0007663Reduced visual acuity2OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM1153188142606580
HP:0007663HP:0007663Reduced visual acuity2OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0007663HP:0007663Reduced visual acuity2OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0007663HP:0007663Reduced visual acuity2PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0007663HP:0007663Reduced visual acuity2PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM15714968620607108
HP:0007663HP:0007663Reduced visual acuity2PDE6B CL E G H5158215Rudd Klimek syndromeORPHA11334748786180072
HP:0007663HP:0007663Reduced visual acuity2PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM1582208787600827
HP:0007663HP:0007663Reduced visual acuity2PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM12608790601190
HP:0007663HP:0007663Reduced visual acuity2PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM1730021043608921
HP:0007663HP:0007663Reduced visual acuity2POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM176530836614784
HP:0007663HP:0007663Reduced visual acuity2POMGNT1 CL E G H55624617123Retinitis pigmentosa 76617123C4310704OMIM18946119139606822
HP:0007663HP:0007663Reduced visual acuity2POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1814826267615247
HP:0007663HP:0007663Reduced visual acuity2PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0007663HP:0007663Reduced visual acuity2PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0007663HP:0007663Reduced visual acuity2PRIMPOL CL E G H201973615420Myopia 22, autosomal dominant615420C3809464OMIM1210626575615421
HP:0007663HP:0007663Reduced visual acuity2PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity2PROM1 CL E G H8842612657Cone-rod dystrophy 12612657C2675210OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity2PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1833409454604365
HP:0007663HP:0007663Reduced visual acuity2PROM1 CL E G H8842603786Stargardt disease 4603786C1863534OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity2PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM117523215446606419
HP:0007663HP:0007663Reduced visual acuity2PRPF6 CL E G H24148613983Retinitis pigmentosa 60613983C3151434OMIM11117015860613979
HP:0007663HP:0007663Reduced visual acuity2PRPH2 CL E G H5961608161Macular dystrophy, vitelliform, adult-onset608161C1842914OMIM11813449942179605
HP:0007663HP:0007663Reduced visual acuity2PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11813449942179605
HP:0007663HP:0007663Reduced visual acuity2PUF60 CL E G H22827508488ORPHA13212917042604819
HP:0007663HP:0007663Reduced visual acuity2RBP3 CL E G H5949615233Retinitis pigmentosa 66615233C3715216OMIM1183779921180290
HP:0007663HP:0007663Reduced visual acuity2RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM18479922180250
HP:0007663HP:0007663Reduced visual acuity2RCBTB1 CL E G H55213617175Retinal dystrophy with or without extraocular anomalies617175C4310680OMIM1911218243607867
HP:0007663HP:0007663Reduced visual acuity2REEP6 CL E G H92840617304Retinitis pigmentosa 77617304C4310626OMIM186930078609346
HP:0007663HP:0007663Reduced visual acuity2RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11317930220611908
HP:0007663HP:0007663Reduced visual acuity2RHO CL E G H6010215Rudd Klimek syndromeORPHA121926710012180380
HP:0007663HP:0007663Reduced visual acuity2RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0007663HP:0007663Reduced visual acuity2RPGR CL E G H6103300834Macular degeneration, X-linked atrophic300834C3151784OMIM124566210295312610
HP:0007663HP:0007663Reduced visual acuity2RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM114936113436605446
HP:0007663HP:0007663Reduced visual acuity2RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM1127418647610502
HP:0007663HP:0007663Reduced visual acuity2SAG CL E G H6295215Rudd Klimek syndromeORPHA11613210521181031
HP:0007663HP:0007663Reduced visual acuity2SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM134110526602219
HP:0007663HP:0007663Reduced visual acuity2SCAPER CL E G H49855618195INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA618195OMIM187113081611611
HP:0007663HP:0007663Reduced visual acuity2SH3BP2 CL E G H6452118400Fibrous dysplasia of jaw118400C0008029OMIM11641110825602104
HP:0007663HP:0007663Reduced visual acuity2SLC24A1 CL E G H9187215Rudd Klimek syndromeORPHA12618810975603617
HP:0007663HP:0007663Reduced visual acuity2SLC24A5 CL E G H283652370097ORPHA1264020611609802
HP:0007663HP:0007663Reduced visual acuity2SLC24A5 CL E G H283652113750Skin/hair/eye pigmentation, variation in, 4113750C2676042OMIM1264020611609802
HP:0007663HP:0007663Reduced visual acuity2SLC38A8 CL E G H146167609218Foveal hypoplasia 2609218C1836603OMIM11810932434615585
HP:0007663HP:0007663Reduced visual acuity2SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM1910320858608736
HP:0007663HP:0007663Reduced visual acuity2SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM19525016438610206
HP:0007663HP:0007663Reduced visual acuity2TACSTD2 CL E G H4070204870Lattice corneal dystrophy Type III204870C0339273OMIM1337011530137290
HP:0007663HP:0007663Reduced visual acuity2TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317829944610083
HP:0007663HP:0007663Reduced visual acuity2TGFBI CL E G H7045607541Avellino corneal dystrophy607541C1275685OMIM17011911771601692
HP:0007663HP:0007663Reduced visual acuity2TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM17011911771601692
HP:0007663HP:0007663Reduced visual acuity2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0007663HP:0007663Reduced visual acuity2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM117725382612988
HP:0007663HP:0007663Reduced visual acuity2TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM1845307146603576
HP:0007663HP:0007663Reduced visual acuity2TRPM1 CL E G H4308215Rudd Klimek syndromeORPHA1845307146603576
HP:0007663HP:0007663Reduced visual acuity2TTC8 CL E G H123016613464Retinitis pigmentosa 51613464C3150715OMIM11612820087608132
HP:0007663HP:0007663Reduced visual acuity2TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM139812406601197
HP:0007663HP:0007663Reduced visual acuity2TUBA3D CL E G H113457617928KERATOCONUS 9617928CN244547OMIM124324071617878
HP:0007663HP:0007663Reduced visual acuity2TUBB4B CL E G H10383617879LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS617879CN807950OMIM137220771602660
HP:0007663HP:0007663Reduced visual acuity2TUBGCP4 CL E G H27229616335Microcephaly and chorioretinopathy, autosomal recessive, 3616335C4225362OMIM167916691609610
HP:0007663HP:0007663Reduced visual acuity2TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0007663HP:0007663Reduced visual acuity2TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM144522612442606933
HP:0007663HP:0007663Reduced visual acuity2VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM135414583608549
HP:0007663HP:0007663Reduced visual acuity2VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0007663HP:0007663Reduced visual acuity2WDR19 CL E G H57728616307Senior-Loken syndrome 8616307C4225376OMIM14529418340608151
HP:0007663HP:0007663Reduced visual acuity2ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524111642189909
HP:0007663HP:0007663Reduced visual acuity2ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM14570020761612012
HP:0007663HP:0007663Reduced visual acuity2ZNF408 CL E G H79797616469Retinitis pigmentosa 72616469C4225315OMIM11411220041616454
HP:0007663HP:0007663Reduced visual acuity3ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280151134601691
HP:0007663HP:0007663Reduced visual acuity3ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA11280151134601691
HP:0007663HP:0007663Reduced visual acuity3ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM138082157603234
HP:0007663HP:0007663Reduced visual acuity3ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM138082157603234
HP:0007663HP:0007663Reduced visual acuity3ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM119185118100850
HP:0007663HP:0007663Reduced visual acuity3AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM179232359604392
HP:0007663HP:0007663Reduced visual acuity3AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1141417360607358
HP:0007663HP:0007663Reduced visual acuity3AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0007663HP:0007663Reduced visual acuity3ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1715117090616432
HP:0007663HP:0007663Reduced visual acuity3ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM153517146615407
HP:0007663HP:0007663Reduced visual acuity3ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM1333694604695
HP:0007663HP:0007663Reduced visual acuity3BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity3BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity3BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM131935412703607854
HP:0007663HP:0007663Reduced visual acuity3BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0007663HP:0007663Reduced visual acuity3C12orf65 CL E G H91574320375ORPHA11111426784613541
HP:0007663HP:0007663Reduced visual acuity3C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM11711927232614477
HP:0007663HP:0007663Reduced visual acuity3CABP4 CL E G H57010215Rudd Klimek syndromeORPHA1131941386608965
HP:0007663HP:0007663Reduced visual acuity3CACNA1F CL E G H778178333ORPHA11854081393300110
HP:0007663HP:0007663Reduced visual acuity3CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM11854081393300110
HP:0007663HP:0007663Reduced visual acuity3CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM11854081393300110
HP:0007663HP:0007663Reduced visual acuity3CACNA1F CL E G H778215Rudd Klimek syndromeORPHA11854081393300110
HP:0007663HP:0007663Reduced visual acuity3CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM1939120202608171
HP:0007663HP:0007663Reduced visual acuity3CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA1939120202608171
HP:0007663HP:0007663Reduced visual acuity3CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM131088429021610142
HP:0007663HP:0007663Reduced visual acuity3CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM13917512605606397
HP:0007663HP:0007663Reduced visual acuity3CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA11264102153605080
HP:0007663HP:0007663Reduced visual acuity3DRAM2 CL E G H128338616502Cone-rod dystrophy 21616502CN231743OMIM1104028769613360
HP:0007663HP:0007663Reduced visual acuity3DTNBP1 CL E G H84062614076Hermansky-Pudlak syndrome 7614076C3279756OMIM157317328607145
HP:0007663HP:0007663Reduced visual acuity3ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA11712214415605512
HP:0007663HP:0007663Reduced visual acuity3ELOVL4 CL E G H6785600110Stargardt Disease 3600110C1838644OMIM11712214415605512
HP:0007663HP:0007663Reduced visual acuity3FBN2 CL E G H2201616118Macular degeneration, early-onset616118C4015286OMIM111314023604612570
HP:0007663HP:0007663Reduced visual acuity3FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1952628079300628
HP:0007663HP:0007663Reduced visual acuity3FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0007663HP:0007663Reduced visual acuity3GNAT1 CL E G H2779215Rudd Klimek syndromeORPHA110874393139330
HP:0007663HP:0007663Reduced visual acuity3GNB3 CL E G H2784215Rudd Klimek syndromeORPHA19864400139130
HP:0007663HP:0007663Reduced visual acuity3GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM11623131371614515
HP:0007663HP:0007663Reduced visual acuity3GPR179 CL E G H440435215Rudd Klimek syndromeORPHA11623131371614515
HP:0007663HP:0007663Reduced visual acuity3GRHL2 CL E G H79977618031CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4618031CN248531OMIM113962799608576
HP:0007663HP:0007663Reduced visual acuity3GRK1 CL E G H6011215Rudd Klimek syndromeORPHA1237610013180381
HP:0007663HP:0007663Reduced visual acuity3GRM6 CL E G H2916215Rudd Klimek syndromeORPHA1382264598604096
HP:0007663HP:0007663Reduced visual acuity3GUCA1A CL E G H2978602093Cone dystrophy 3602093C1865869OMIM1231204678600364
HP:0007663HP:0007663Reduced visual acuity3GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM12433884689600179
HP:0007663HP:0007663Reduced visual acuity3HK1 CL E G H3098617460Retinitis pigmentosa 79617460C4479526OMIM19964922142600
HP:0007663HP:0007663Reduced visual acuity3HPS4 CL E G H89781614073Hermansky-Pudlak syndrome 4614073C3484357OMIM12321815844606682
HP:0007663HP:0007663Reduced visual acuity3HPS5 CL E G H11234614074Hermansky-Pudlak syndrome 5614074C3888004OMIM13117917022607521
HP:0007663HP:0007663Reduced visual acuity3HPS6 CL E G H79803614075Hermansky-Pudlak syndrome 6614075C3888007OMIM13710618817607522
HP:0007663HP:0007663Reduced visual acuity3IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM1241986052146690
HP:0007663HP:0007663Reduced visual acuity3IMPG2 CL E G H50939613581Retinitis pigmentosa 56613581C3150819OMIM14234618362607056
HP:0007663HP:0007663Reduced visual acuity3INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM15432521474613037
HP:0007663HP:0007663Reduced visual acuity3KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101096259603208
HP:0007663HP:0007663Reduced visual acuity3KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM1158429508615759
HP:0007663HP:0007663Reduced visual acuity3KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0007663HP:0007663Reduced visual acuity3KRT12 CL E G H3859122100Meesman's corneal dystrophy122100C0339277OMIM125356414601687
HP:0007663HP:0007663Reduced visual acuity3KRT3 CL E G H3850122100Meesman's corneal dystrophy122100C0339277OMIM14266440148043
HP:0007663HP:0007663Reduced visual acuity3LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM1241586685604863
HP:0007663HP:0007663Reduced visual acuity3LRIT3 CL E G H345193215Rudd Klimek syndromeORPHA1914524783615004
HP:0007663HP:0007663Reduced visual acuity3LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM12214116697603506
HP:0007663HP:0007663Reduced visual acuity3LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM12214116697603506
HP:0007663HP:0007663Reduced visual acuity3LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM151186701104225
HP:0007663HP:0007663Reduced visual acuity3LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM11028071968606897
HP:0007663HP:0007663Reduced visual acuity3MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM14896783159460
HP:0007663HP:0007663Reduced visual acuity3MAPKAPK3 CL E G H7867617111Macular dystrophy, patterned, 3617111C4310713OMIM11336888602130
HP:0007663HP:0007663Reduced visual acuity3MARK3 CL E G H4140618283618283618283OMIM12546897602678
HP:0007663HP:0007663Reduced visual acuity3MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM13125918121606227
HP:0007663HP:0007663Reduced visual acuity3MFSD8 CL E G H256471616170Macular dystrophy with central cone involvement616170C4015371OMIM14935028486611124
HP:0007663HP:0007663Reduced visual acuity3MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM141931555613146
HP:0007663HP:0007663Reduced visual acuity3MIR204 CL E G H406987616722Retinal dystrophy and iris coloboma with or without congenital cataract616722C4225233OMIM114331582610942
HP:0007663HP:0007663Reduced visual acuity3MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0007663HP:0007663Reduced visual acuity3MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM19527424525609831
HP:0007663HP:0007663Reduced visual acuity3MMP19 CL E G H4327611543Cavitary optic disc anomalies611543C1969063OMIM14207165601807
HP:0007663HP:0007663Reduced visual acuity3NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM14415615625608025
HP:0007663HP:0007663Reduced visual acuity3NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM11672077678300658
HP:0007663HP:0007663Reduced visual acuity3NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341237975132890
HP:0007663HP:0007663Reduced visual acuity3NYX CL E G H60506215Rudd Klimek syndromeORPHA1912568082300278
HP:0007663HP:0007663Reduced visual acuity3OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM13165388101611409
HP:0007663HP:0007663Reduced visual acuity3OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM12643428108300535
HP:0007663HP:0007663Reduced visual acuity3OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM13944418140605290
HP:0007663HP:0007663Reduced visual acuity3OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM13944418140605290
HP:0007663HP:0007663Reduced visual acuity3OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM1153188142606580
HP:0007663HP:0007663Reduced visual acuity3OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM1153188142606580
HP:0007663HP:0007663Reduced visual acuity3OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM1632509936300822
HP:0007663HP:0007663Reduced visual acuity3OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM1212404206300821
HP:0007663HP:0007663Reduced visual acuity3PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15714968620607108
HP:0007663HP:0007663Reduced visual acuity3PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM15714968620607108
HP:0007663HP:0007663Reduced visual acuity3PDE6B CL E G H5158215Rudd Klimek syndromeORPHA11334748786180072
HP:0007663HP:0007663Reduced visual acuity3PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM1582208787600827
HP:0007663HP:0007663Reduced visual acuity3PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM12608790601190
HP:0007663HP:0007663Reduced visual acuity3PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM1730021043608921
HP:0007663HP:0007663Reduced visual acuity3POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM176530836614784
HP:0007663HP:0007663Reduced visual acuity3POMGNT1 CL E G H55624617123Retinitis pigmentosa 76617123C4310704OMIM18946119139606822
HP:0007663HP:0007663Reduced visual acuity3POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM1814826267615247
HP:0007663HP:0007663Reduced visual acuity3PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM112121017652300651
HP:0007663HP:0007663Reduced visual acuity3PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM13229352176763
HP:0007663HP:0007663Reduced visual acuity3PRIMPOL CL E G H201973615420Myopia 22, autosomal dominant615420C3809464OMIM1210626575615421
HP:0007663HP:0007663Reduced visual acuity3PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity3PROM1 CL E G H8842612657Cone-rod dystrophy 12612657C2675210OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity3PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA1833409454604365
HP:0007663HP:0007663Reduced visual acuity3PROM1 CL E G H8842603786Stargardt disease 4603786C1863534OMIM1833409454604365
HP:0007663HP:0007663Reduced visual acuity3PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM117523215446606419
HP:0007663HP:0007663Reduced visual acuity3PRPF6 CL E G H24148613983Retinitis pigmentosa 60613983C3151434OMIM11117015860613979
HP:0007663HP:0007663Reduced visual acuity3PRPH2 CL E G H5961608161Macular dystrophy, vitelliform, adult-onset608161C1842914OMIM11813449942179605
HP:0007663HP:0007663Reduced visual acuity3PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA11813449942179605
HP:0007663HP:0007663Reduced visual acuity3PUF60 CL E G H22827508488ORPHA13212917042604819
HP:0007663HP:0007663Reduced visual acuity3RBP3 CL E G H5949615233Retinitis pigmentosa 66615233C3715216OMIM1183779921180290
HP:0007663HP:0007663Reduced visual acuity3RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM18479922180250
HP:0007663HP:0007663Reduced visual acuity3RCBTB1 CL E G H55213617175Retinal dystrophy with or without extraocular anomalies617175C4310680OMIM1911218243607867
HP:0007663HP:0007663Reduced visual acuity3REEP6 CL E G H92840617304Retinitis pigmentosa 77617304C4310626OMIM186930078609346
HP:0007663HP:0007663Reduced visual acuity3RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM11317930220611908
HP:0007663HP:0007663Reduced visual acuity3RHO CL E G H6010215Rudd Klimek syndromeORPHA121926710012180380
HP:0007663HP:0007663Reduced visual acuity3RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM124566210295312610
HP:0007663HP:0007663Reduced visual acuity3RPGR CL E G H6103300834Macular degeneration, X-linked atrophic300834C3151784OMIM124566210295312610
HP:0007663HP:0007663Reduced visual acuity3RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM114936113436605446
HP:0007663HP:0007663Reduced visual acuity3RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM1127418647610502
HP:0007663HP:0007663Reduced visual acuity3SAG CL E G H6295215Rudd Klimek syndromeORPHA11613210521181031
HP:0007663HP:0007663Reduced visual acuity3SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM134110526602219
HP:0007663HP:0007663Reduced visual acuity3SCAPER CL E G H49855618195INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA618195OMIM187113081611611
HP:0007663HP:0007663Reduced visual acuity3SH3BP2 CL E G H6452118400Fibrous dysplasia of jaw118400C0008029OMIM11641110825602104
HP:0007663HP:0007663Reduced visual acuity3SLC24A1 CL E G H9187215Rudd Klimek syndromeORPHA12618810975603617
HP:0007663HP:0007663Reduced visual acuity3SLC24A5 CL E G H283652370097ORPHA1264020611609802
HP:0007663HP:0007663Reduced visual acuity3SLC24A5 CL E G H283652113750Skin/hair/eye pigmentation, variation in, 4113750C2676042OMIM1264020611609802
HP:0007663HP:0007663Reduced visual acuity3SLC38A8 CL E G H146167609218Foveal hypoplasia 2609218C1836603OMIM11810932434615585
HP:0007663HP:0007663Reduced visual acuity3SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM1910320858608736
HP:0007663HP:0007663Reduced visual acuity3SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM19525016438610206
HP:0007663HP:0007663Reduced visual acuity3TACSTD2 CL E G H4070204870Lattice corneal dystrophy Type III204870C0339273OMIM1337011530137290
HP:0007663HP:0007663Reduced visual acuity3TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM1317829944610083
HP:0007663HP:0007663Reduced visual acuity3TGFBI CL E G H7045607541Avellino corneal dystrophy607541C1275685OMIM17011911771601692
HP:0007663HP:0007663Reduced visual acuity3TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM17011911771601692
HP:0007663HP:0007663Reduced visual acuity3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM12218511817300356
HP:0007663HP:0007663Reduced visual acuity3TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM117725382612988
HP:0007663HP:0007663Reduced visual acuity3TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM1845307146603576
HP:0007663HP:0007663Reduced visual acuity3TRPM1 CL E G H4308215Rudd Klimek syndromeORPHA1845307146603576
HP:0007663HP:0007663Reduced visual acuity3TTC8 CL E G H123016613464Retinitis pigmentosa 51613464C3150715OMIM11612820087608132
HP:0007663HP:0007663Reduced visual acuity3TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM139812406601197
HP:0007663HP:0007663Reduced visual acuity3TUBA3D CL E G H113457617928KERATOCONUS 9617928CN244547OMIM124324071617878
HP:0007663HP:0007663Reduced visual acuity3TUBB4B CL E G H10383617879LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS617879CN807950OMIM137220771602660
HP:0007663HP:0007663Reduced visual acuity3TUBGCP4 CL E G H27229616335Microcephaly and chorioretinopathy, autosomal recessive, 3616335C4225362OMIM167916691609610
HP:0007663HP:0007663Reduced visual acuity3TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0007663HP:0007663Reduced visual acuity3TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM144522612442606933
HP:0007663HP:0007663Reduced visual acuity3VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM135414583608549
HP:0007663HP:0007663Reduced visual acuity3VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0007663HP:0007663Reduced visual acuity3WDR19 CL E G H57728616307Senior-Loken syndrome 8616307C4225376OMIM14529418340608151
HP:0007663HP:0007663Reduced visual acuity3ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM1524111642189909
HP:0007663HP:0007663Reduced visual acuity3ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM14570020761612012
HP:0007663HP:0007663Reduced visual acuity3ZNF408 CL E G H79797616469Retinitis pigmentosa 72616469C4225315OMIM11411220041616454
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007663HP:0007663Reduced visual acuity0ARSA CL E G H410309256ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity0ARSA CL E G H410309263ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity0ARSA CL E G H410309271ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity0ATF6 CL E G H22926616517Achromatopsia 7616517C4225297OMIM01694791605537
HP:0007663HP:0007663Reduced visual acuity0C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM01111426784613541
HP:0007663HP:0007663Reduced visual acuity0CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM01072982383602225
HP:0007663HP:0007663Reduced visual acuity0DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA0232022898238331
HP:0007663HP:0007663Reduced visual acuity0FXN CL E G H239595ORPHA0661013951606829
HP:0007663HP:0007663Reduced visual acuity0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM0661013951606829
HP:0007663HP:0007663Reduced visual acuity0IMPDH1 CL E G H3614180105Retinitis pigmentosa 10180105C1867299OMIM0241986052146690
HP:0007663HP:0007663Reduced visual acuity0KIF1C CL E G H10749397946ORPHA0171976317603060
HP:0007663HP:0007663Reduced visual acuity0MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM0177629666611766
HP:0007663HP:0007663Reduced visual acuity0PSAP CL E G H5660309256ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity0PSAP CL E G H5660309263ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity0PSAP CL E G H5660309271ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity0SLC1A3 CL E G H6507209967ORPHA01814510941600111
HP:0007663HP:0007663Reduced visual acuity0TMEM98 CL E G H26022615972Nanophthalmos 4615972C4014848OMIM061524529615949
HP:0007663HP:0007663Reduced visual acuity0TSPAN12 CL E G H23554613310Exudative vitreoretinopathy 5613310C2750079OMIM05110321641613138
HP:0007663HP:0007663Reduced visual acuity0TULP1 CL E G H7287600132Retinitis pigmentosa 14600132C1838603OMIM07520812423602280
HP:0007663HP:0007663Reduced visual acuity1ARSA CL E G H410309263ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity1ARSA CL E G H410309271ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity1ARSA CL E G H410309256ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity1ATF6 CL E G H22926616517Achromatopsia 7616517C4225297OMIM01694791605537
HP:0007663HP:0007663Reduced visual acuity1C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM01111426784613541
HP:0007663HP:0007663Reduced visual acuity1CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM01072982383602225
HP:0007663HP:0007663Reduced visual acuity1DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA0232022898238331
HP:0007663HP:0007663Reduced visual acuity1FXN CL E G H239595ORPHA0661013951606829
HP:0007663HP:0007663Reduced visual acuity1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM0661013951606829
HP:0007663HP:0007663Reduced visual acuity1IMPDH1 CL E G H3614180105Retinitis pigmentosa 10180105C1867299OMIM0241986052146690
HP:0007663HP:0007663Reduced visual acuity1KIF1C CL E G H10749397946ORPHA0171976317603060
HP:0007663HP:0007663Reduced visual acuity1MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM0177629666611766
HP:0007663HP:0007663Reduced visual acuity1PSAP CL E G H5660309256ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity1PSAP CL E G H5660309263ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity1PSAP CL E G H5660309271ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity1SLC1A3 CL E G H6507209967ORPHA01814510941600111
HP:0007663HP:0007663Reduced visual acuity1TMEM98 CL E G H26022615972Nanophthalmos 4615972C4014848OMIM061524529615949
HP:0007663HP:0007663Reduced visual acuity1TSPAN12 CL E G H23554613310Exudative vitreoretinopathy 5613310C2750079OMIM05110321641613138
HP:0007663HP:0007663Reduced visual acuity1TULP1 CL E G H7287600132Retinitis pigmentosa 14600132C1838603OMIM07520812423602280
HP:0007663HP:0007663Reduced visual acuity2ARSA CL E G H410309263ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity2ARSA CL E G H410309271ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity2ARSA CL E G H410309256ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity2ATF6 CL E G H22926616517Achromatopsia 7616517C4225297OMIM01694791605537
HP:0007663HP:0007663Reduced visual acuity2C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM01111426784613541
HP:0007663HP:0007663Reduced visual acuity2CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM01072982383602225
HP:0007663HP:0007663Reduced visual acuity2DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA0232022898238331
HP:0007663HP:0007663Reduced visual acuity2FXN CL E G H239595ORPHA0661013951606829
HP:0007663HP:0007663Reduced visual acuity2FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM0661013951606829
HP:0007663HP:0007663Reduced visual acuity2IMPDH1 CL E G H3614180105Retinitis pigmentosa 10180105C1867299OMIM0241986052146690
HP:0007663HP:0007663Reduced visual acuity2KIF1C CL E G H10749397946ORPHA0171976317603060
HP:0007663HP:0007663Reduced visual acuity2MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM0177629666611766
HP:0007663HP:0007663Reduced visual acuity2PSAP CL E G H5660309263ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity2PSAP CL E G H5660309271ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity2PSAP CL E G H5660309256ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity2SLC1A3 CL E G H6507209967ORPHA01814510941600111
HP:0007663HP:0007663Reduced visual acuity2TMEM98 CL E G H26022615972Nanophthalmos 4615972C4014848OMIM061524529615949
HP:0007663HP:0007663Reduced visual acuity2TSPAN12 CL E G H23554613310Exudative vitreoretinopathy 5613310C2750079OMIM05110321641613138
HP:0007663HP:0007663Reduced visual acuity2TULP1 CL E G H7287600132Retinitis pigmentosa 14600132C1838603OMIM07520812423602280
HP:0007663HP:0007663Reduced visual acuity3ARSA CL E G H410309271ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity3ARSA CL E G H410309256ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity3ARSA CL E G H410309263ORPHA0254567713607574
HP:0007663HP:0007663Reduced visual acuity3ATF6 CL E G H22926616517Achromatopsia 7616517C4225297OMIM01694791605537
HP:0007663HP:0007663Reduced visual acuity3C12orf65 CL E G H91574615035Spastic paraplegia 55, autosomal recessive615035C3539506OMIM01111426784613541
HP:0007663HP:0007663Reduced visual acuity3CRX CL E G H1406120970Cone-rod dystrophy 2120970CN074280OMIM01072982383602225
HP:0007663HP:0007663Reduced visual acuity3DLD CL E G H17382394Frontonasal dysplasia Klippel Feil syndromeORPHA0232022898238331
HP:0007663HP:0007663Reduced visual acuity3FXN CL E G H239595ORPHA0661013951606829
HP:0007663HP:0007663Reduced visual acuity3FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM0661013951606829
HP:0007663HP:0007663Reduced visual acuity3IMPDH1 CL E G H3614180105Retinitis pigmentosa 10180105C1867299OMIM0241986052146690
HP:0007663HP:0007663Reduced visual acuity3KIF1C CL E G H10749397946ORPHA0171976317603060
HP:0007663HP:0007663Reduced visual acuity3MTFMT CL E G H123263614947Combined oxidative phosphorylation deficiency 15614947C3554182OMIM0177629666611766
HP:0007663HP:0007663Reduced visual acuity3PSAP CL E G H5660309271ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity3PSAP CL E G H5660309256ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity3PSAP CL E G H5660309263ORPHA0272209498176801
HP:0007663HP:0007663Reduced visual acuity3SLC1A3 CL E G H6507209967ORPHA01814510941600111
HP:0007663HP:0007663Reduced visual acuity3TMEM98 CL E G H26022615972Nanophthalmos 4615972C4014848OMIM061524529615949
HP:0007663HP:0007663Reduced visual acuity3TSPAN12 CL E G H23554613310Exudative vitreoretinopathy 5613310C2750079OMIM05110321641613138
HP:0007663HP:0007663Reduced visual acuity3TULP1 CL E G H7287600132Retinitis pigmentosa 14600132C1838603OMIM07520812423602280


Genes (360) :ABCA4 ABCC6 ABCD1 ACO2 ACTB ACVRL1 ADAMTS10 ADAMTSL4 AGBL5 AHI1 AHR AIP AIPL1 AIRE ALG3 ALMS1 AP3B1 AP4B1 AP4E1 AP4M1 AP4S1 ARHGEF18 ARHGEF2 ARL2BP ARL3 ARL6 ARNT2 ARSA ASPA ATF6 ATIC ATP1A3 ATP6 ATRX ATXN7 B3GALNT2 B3GAT3 B4GAT1 BBS2 BCOR BEST1 BLOC1S3 BMP4 BRAF BTNL2 C12ORF65 C12orf65 C1QBP C1QTNF5 C4A C8ORF37 C8orf37 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CBS CC2D2A CCR1 CDH23 CDH3 CDHR1 CEP164 CEP290 CERKL CHN1 CHST3 CLCN7 CLN3 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 COL11A1 COL25A1 COL2A1 COL4A1 COL9A1 COL9A2 COL9A3 COX7B CRB1 CRX CRYAA CRYBB1 CRYGC CTC1 CTNNB1 CTNS DHDDS DHX38 DLD DPP6 DRAM2 DTNBP1 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELN ELOVL4 ENG EPRS ERAP1 ERF EYS FAM161A FAS FBN1 FBN2 FGFR2 FGFR3 FKRP FKTN FLVCR1 FRAS1 FREM2 FRMD7 FSCN2 FXN FZD4 GALC GDF2 GDF6 GJB2 GM2A GNAQ GNAS GNAT1 GNB3 GPR143 GPR179 GRHL2 GRIP1 GRK1 GRM6 GUCA1A GUCA1B GUCY2D HCCS HEXA HEXB HGSNAT HIST1H1E HK1 HLA-B HLA-DRB1 HPS1 HPS4 HPS5 HPS6 IDH3B IFT140 IFT172 IFT88 IL10 IL12A IL12A-AS1 IL23R IMPDH1 IMPG1 IMPG2 INPP5E IQCB1 KCNJ13 KIAA1549 KIDINS220 KIF11 KIF14 KIF1C KIZ KLHL7 KLRC4 KRT12 KRT3 LAMA1 LAMB2 LARGE1 LCA5 LIM2 LRAT LRIT3 LRP5 LRPAP1 LYST MAFB MAG MAK MAPKAPK3 MARK3 MEFV MEN1 MERTK MFRP MFSD8 MIR184 MIR204 MITF MLXIPL MMACHC MMP19 MTFMT MTR MTRR NAA10 NBAS NDP NDUFB11 NDUFS4 NEK2 NHS NLRC4 NLRP3 NMNAT1 NPHP4 NR2E3 NR2F1 NRL NSMCE2 NYX OAT OCA2 OCRL OFD1 OGT OPA1 OPA3 OPN1LW OPN1MW PANK2 PAX6 PCARE PCYT1A PDE6A PDE6B PDE6C PDE6G PDE6H PEX6 PHOX2A PIGN PIK3R2 PITPNM3 PITX2 PITX3 PLG PLOD1 POC1B POLG POMGNT1 POMK POMT1 POMT2 PORCN PPT1 PQBP1 PRCD PRDX1 PRIMPOL PROM1 PROS1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSAP PUF60 RBP3 RBP4 RCBTB1 RD3 RDH12 REEP6 RFT1 RGR RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RPGRIP1 RTN4IP1 SAG SALL2 SCAPER SCN1A SCN8A SDHA SDHAF1 SDHB SDHD SEMA4A SH3BP2 SLC1A3 SLC24A1 SLC24A5 SLC38A8 SLC39A14 SLC4A11 SLC52A2 SLC7A14 SMAD4 SMCHD1 SNRNP200 SOBP SPATA7 STAT4 TACSTD2 TBC1D24 TBX1 TCIRG1 TENM3 TGFBI TIMM8A TIMP3 TLR4 TMEM126A TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 TMEM98 TNFSF11 TOPORS TRPM1 TSPAN12 TTC8 TUB TUBA3D TUBB3 TUBB4B TUBGCP4 TULP1 TWIST1 TYR UBAC2 USH2A VPS11 VPS13B WARS2 WDR19 WDR26 WHRN XRCC4 XYLT2 YME1L1 ZEB1 ZFYVE26 ZNF408 ZNF423 ZNF513

Diseases (295) :601718 827 264800 177850 616289 604393 240300 608233 617433 615434 618173 309256 309263 309271 616517 611809 613194 153700 614077 320375 615035 614500 215 178333 300476 300071 610478 610189 276902 120970 2394 616502 614076 600110 616118 310700 95 229300 133780 614565 618031 602093 601777 617460 614073 614074 614075 613837 180105 613581 610156 614186 617296 152950 397946 122100 613341 601813 615431 214500 616680 617111 618283 611040 616170 614303 616722 103470 277400 611543 614947 614800 305390 615722 203200 309000 125250 165500 258501 165300 303700 120200 165550 613093 610024 600977 615973 617123 615249 305600 615420 608051 612657 603786 600138 613983 608161 508488 615233 615147 617175 617304 612015 304020 300834 608194 616732 216820 618195 118400 209967 370097 113750 609218 144755 217400 204870 615145 607541 608471 304700 612989 615972 613216 613310 613464 616188 617928 617879 616335 600132 203100 616683 216550 616307 613270 270700 616469 791 300100 79107 774 277600 1885 2965 65 601110 64 203800 280763 617523 615926 271900 601338 644 551500 847 94147 615181 245600 615287 309800 193220 607932 54595 797 617713 605670 117 617406 300600 193235 394 2318 91347 1573 601553 614845 233 604356 53 204200 216900 262300 250984 560 108300 607595 2556 604219 611544 604307 612199 219800 616311 603896 194050 617951 207 608328 794 93260 236670 609033 2052 219000 90050 245200 148210 272750 3205 174800 610444 616389 300814 204000 272800 268800 617537 203300 617781 616394 616151 616152 2526 617914 615960 609049 615277 2788 259770 167 610951 250940 236270 649 310600 252010 302200 1451 606996 613750 258870 534 300997 67036 216873 216866 35737 95433 602078 280633 614080 603387 180550 610623 97231 217090 225400 726 256730 309500 614514 613731 204100 613794 613826 609634 614306 3208 610282 613830 2250 613671 220500 188400 259700 136900 610688 259710 600638 617710 617616 611383 605822 617302 613617 250977 608688 610188 615360 436182 137902 610612 300570
 

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