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 19601718C1866422OMIM1212834601691
HP:0007663HP:0007663Reduced visual acuity0ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0007663HP:0007663Reduced visual acuity0ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007663HP:0007663Reduced visual acuity0ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007663HP:0007663Reduced visual acuity0ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0007663HP:0007663Reduced visual acuity0ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0007663HP:0007663Reduced visual acuity0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0007663HP:0007663Reduced visual acuity0ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0007663HP:0007663Reduced visual acuity0ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0007663HP:0007663Reduced visual acuity0ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0007663HP:0007663Reduced visual acuity0AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0007663HP:0007663Reduced visual acuity0AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0007663HP:0007663Reduced visual acuity0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0007663HP:0007663Reduced visual acuity0AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0007663HP:0007663Reduced visual acuity0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0007663HP:0007663Reduced visual acuity0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0007663HP:0007663Reduced visual acuity0ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0007663HP:0007663Reduced visual acuity0ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0007663HP:0007663Reduced visual acuity0ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0007663HP:0007663Reduced visual acuity0ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0007663HP:0007663Reduced visual acuity0ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0007663HP:0007663Reduced visual acuity0ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0007663HP:0007663Reduced visual acuity0BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0007663HP:0007663Reduced visual acuity0BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0007663HP:0007663Reduced visual acuity0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0007663HP:0007663Reduced visual acuity0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0007663HP:0007663Reduced visual acuity0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0007663HP:0007663Reduced visual acuity0BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0007663HP:0007663Reduced visual acuity0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0007663HP:0007663Reduced visual acuity0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0007663HP:0007663Reduced visual acuity0C12orf65 CL E G H91574320375ORPHA126784613541
HP:0007663HP:0007663Reduced visual acuity0C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0007663HP:0007663Reduced visual acuity0CABP4 CL E G H57010215Rudd Klimek syndromeORPHA12521386608965
HP:0007663HP:0007663Reduced visual acuity0CABP4 CL E G H57010215Rudd Klimek syndromeORPHA13121386608965
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778178333ORPHA16581393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778178333ORPHA18181393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778215Rudd Klimek syndromeORPHA16581393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA1F CL E G H778215Rudd Klimek syndromeORPHA18181393300110
HP:0007663HP:0007663Reduced visual acuity0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007663HP:0007663Reduced visual acuity0CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007663HP:0007663Reduced visual acuity0CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA159320202608171
HP:0007663HP:0007663Reduced visual acuity0CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA175720202608171
HP:0007663HP:0007663Reduced visual acuity0CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM1153529021610142
HP:0007663HP:0007663Reduced visual acuity0CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM1190229021610142
HP:0007663HP:0007663Reduced visual acuity0CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM124212605606397
HP:0007663HP:0007663Reduced visual acuity0CLRN1 CL E G H7401276902Usher syndrome, type 3A276902C1568248OMIM127212605606397
HP:0007663HP:0007663Reduced visual acuity0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA15902153605080
HP:0007663HP:0007663Reduced visual acuity0CNGB3 CL E G H54714827Stargardt diseaseC0271093ORPHA17002153605080
HP:0007663HP:0007663Reduced visual acuity0DRAM2 CL E G H128338616502Cone-rod dystrophy 21616502CN231743OMIM17328769613360
HP:0007663HP:0007663Reduced visual acuity0DRAM2 CL E G H128338616502Cone-rod dystrophy 21616502CN231743OMIM111728769613360
HP:0007663HP:0007663Reduced visual acuity0DTNBP1 CL E G H84062614076Hermansky-Pudlak syndrome 7614076C3279756OMIM112217328607145
HP:0007663HP:0007663Reduced visual acuity0DTNBP1 CL E G H84062614076Hermansky-Pudlak syndrome 7614076C3279756OMIM118117328607145
HP:0007663HP:0007663Reduced visual acuity0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA117814415605512
HP:0007663HP:0007663Reduced visual acuity0ELOVL4 CL E G H6785827Stargardt diseaseC0271093ORPHA121314415605512
HP:0007663HP:0007663Reduced visual acuity0ELOVL4 CL E G H6785600110Stargardt Disease 3600110C1838644OMIM117814415605512
HP:0007663HP:0007663Reduced visual acuity0ELOVL4 CL E G H6785600110Stargardt Disease 3600110C1838644OMIM121314415605512
HP:0007663HP:0007663Reduced visual acuity0FBN2 CL E G H2201616118Macular degeneration, early-onset616118C4015286OMIM118383604612570
HP:0007663HP:0007663Reduced visual acuity0FBN2 CL E G H2201616118Macular degeneration, early-onset616118C4015286OMIM119783604612570
HP:0007663HP:0007663Reduced visual acuity0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM13418079300628
HP:0007663HP:0007663Reduced visual acuity0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM13958079300628
HP:0007663HP:0007663Reduced visual acuity0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM12664042604579
HP:0007663HP:0007663Reduced visual acuity0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM13214042604579
HP:0007663HP:0007663Reduced visual acuity0GNAT1 CL E G H2779215Rudd Klimek syndromeORPHA11514393139330
HP:0007663HP:0007663Reduced visual acuity0GNAT1 CL E G H2779215Rudd Klimek syndromeORPHA11864393139330
HP:0007663HP:0007663Reduced visual acuity0GNB3 CL E G H2784215Rudd Klimek syndromeORPHA11704400139130
HP:0007663HP:0007663Reduced visual acuity0GNB3 CL E G H2784215Rudd Klimek syndromeORPHA12254400139130
HP:0007663HP:0007663Reduced visual acuity0GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM132031371614515
HP:0007663HP:0007663Reduced visual acuity0GPR179 CL E G H440435614565Congenital stationary night blindness, type 1E614565C3281215OMIM168131371614515
HP:0007663HP:0007663Reduced visual acuity0GPR179 CL E G H440435215Rudd Klimek syndromeORPHA132031371614515
HP:0007663HP:0007663Reduced visual acuity0GPR179 CL E G H440435215Rudd Klimek syndromeORPHA168131371614515
HP:0007663HP:0007663Reduced visual acuity0GRHL2 CL E G H79977618031CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4618031CN248531OMIM11722799608576
HP:0007663HP:0007663Reduced visual acuity0GRHL2 CL E G H79977618031CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4618031CN248531OMIM11802799608576
HP:0007663HP:0007663Reduced visual acuity0GRK1 CL E G H6011215Rudd Klimek syndromeORPHA18210013180381
HP:0007663HP:0007663Reduced visual acuity0GRK1 CL E G H6011215Rudd Klimek syndromeORPHA18310013180381
HP:0007663HP:0007663Reduced visual acuity0GRM6 CL E G H2916215Rudd Klimek syndromeORPHA14434598604096
HP:0007663HP:0007663Reduced visual acuity0GRM6 CL E G H2916215Rudd Klimek syndromeORPHA15744598604096
HP:0007663HP:0007663Reduced visual acuity0GUCA1A CL E G H2978602093Cone dystrophy 3602093C1865869OMIM11584678600364
HP:0007663HP:0007663Reduced visual acuity0GUCA1A CL E G H2978602093Cone dystrophy 3602093C1865869OMIM11904678600364
HP:0007663HP:0007663Reduced visual acuity0GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM15934689600179
HP:0007663HP:0007663Reduced visual acuity0GUCY2D CL E G H3000601777Cone-rod dystrophy 6601777C1866293OMIM17314689600179
HP:0007663HP:0007663Reduced visual acuity0HK1 CL E G H3098617460Retinitis pigmentosa 79617460C4479526OMIM12344922142600
HP:0007663HP:0007663Reduced visual acuity0HK1 CL E G H3098617460Retinitis pigmentosa 79617460C4479526OMIM13104922142600
HP:0007663HP:0007663Reduced visual acuity0HPS4 CL E G H89781614073Hermansky-Pudlak syndrome 4614073C3484357OMIM126315844606682
HP:0007663HP:0007663Reduced visual acuity0HPS4 CL E G H89781614073Hermansky-Pudlak syndrome 4614073C3484357OMIM134215844606682
HP:0007663HP:0007663Reduced visual acuity0HPS5 CL E G H11234614074Hermansky-Pudlak syndrome 5614074C3888004OMIM126517022607521
HP:0007663HP:0007663Reduced visual acuity0HPS5 CL E G H11234614074Hermansky-Pudlak syndrome 5614074C3888004OMIM139817022607521
HP:0007663HP:0007663Reduced visual acuity0HPS6 CL E G H79803614075Hermansky-Pudlak syndrome 6614075C3888007OMIM113018817607522
HP:0007663HP:0007663Reduced visual acuity0HPS6 CL E G H79803614075Hermansky-Pudlak syndrome 6614075C3888007OMIM122218817607522
HP:0007663HP:0007663Reduced visual acuity0IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM12836052146690
HP:0007663HP:0007663Reduced visual acuity0IMPDH1 CL E G H3614613837Leber congenital amaurosis 11613837C1840284OMIM13456052146690
HP:0007663HP:0007663Reduced visual acuity0IMPG2 CL E G H50939613581Retinitis pigmentosa 56613581C3150819OMIM149818362607056
HP:0007663HP:0007663Reduced visual acuity0IMPG2 CL E G H50939613581Retinitis pigmentosa 56613581C3150819OMIM162618362607056
HP:0007663HP:0007663Reduced visual acuity0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM146621474613037
HP:0007663HP:0007663Reduced visual acuity0INPP5E CL E G H56623610156MORM syndrome610156C1857802OMIM155921474613037
HP:0007663HP:0007663Reduced visual acuity0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM11466259603208
HP:0007663HP:0007663Reduced visual acuity0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM11746259603208
HP:0007663HP:0007663Reduced visual acuity0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM114629508615759
HP:0007663HP:0007663Reduced visual acuity0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM122229508615759
HP:0007663HP:0007663Reduced visual acuity0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14056388148760
HP:0007663HP:0007663Reduced visual acuity0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM14986388148760
HP:0007663HP:0007663Reduced visual acuity0KRT12 CL E G H3859122100Meesman's corneal dystrophy122100C0339277OMIM1386414601687
HP:0007663HP:0007663Reduced visual acuity0KRT3 CL E G H3850122100Meesman's corneal dystrophy122100C0339277OMIM1286440148043
HP:0007663HP:0007663Reduced visual acuity0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM11826685604863
HP:0007663HP:0007663Reduced visual acuity0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM12056685604863
HP:0007663HP:0007663Reduced visual acuity0LRIT3 CL E G H345193215Rudd Klimek syndromeORPHA122724783615004
HP:0007663HP:0007663Reduced visual acuity0LRIT3 CL E G H345193215Rudd Klimek syndromeORPHA128924783615004
HP:0007663HP:0007663Reduced visual acuity0LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM18616697603506
HP:0007663HP:0007663Reduced visual acuity0LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM111276697603506
HP:0007663HP:0007663Reduced visual acuity0LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM18616697603506
HP:0007663HP:0007663Reduced visual acuity0LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM111276697603506
HP:0007663HP:0007663Reduced visual acuity0LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM11226701104225
HP:0007663HP:0007663Reduced visual acuity0LRPAP1 CL E G H4043615431Myopia 23, autosomal recessive615431C3809482OMIM11236701104225
HP:0007663HP:0007663Reduced visual acuity0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM111761968606897
HP:0007663HP:0007663Reduced visual acuity0LYST CL E G H1130214500Chédiak-Higashi syndrome214500C0007965OMIM115181968606897
HP:0007663HP:0007663Reduced visual acuity0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11106783159460
HP:0007663HP:0007663Reduced visual acuity0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11466783159460
HP:0007663HP:0007663Reduced visual acuity0MAPKAPK3 CL E G H7867617111Macular dystrophy, patterned, 3617111C4310713OMIM1876888602130
HP:0007663HP:0007663Reduced visual acuity0MAPKAPK3 CL E G H7867617111Macular dystrophy, patterned, 3617111C4310713OMIM11386888602130
HP:0007663HP:0007663Reduced visual acuity0MARK3 CL E G H4140618283618283618283OMIM1566897602678
HP:0007663HP:0007663Reduced visual acuity0MARK3 CL E G H4140618283618283618283OMIM1606897602678
HP:0007663HP:0007663Reduced visual acuity0MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM141818121606227
HP:0007663HP:0007663Reduced visual acuity0MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM152618121606227
HP:0007663HP:0007663Reduced visual acuity0MFSD8 CL E G H256471616170Macular dystrophy with central cone involvement616170C4015371OMIM151828486611124
HP:0007663HP:0007663Reduced visual acuity0MFSD8 CL E G H256471616170Macular dystrophy with central cone involvement616170C4015371OMIM159528486611124
HP:0007663HP:0007663Reduced visual acuity0MIR184 CL E G H406960614303EDICT syndrome614303C3280392OMIM12631555613146
HP:0007663HP:0007663Reduced visual acuity0MIR204 CL E G H406987616722Retinal dystrophy and iris coloboma with or without congenital cataract616722C4225233OMIM14431582610942
HP:0007663HP:0007663Reduced visual acuity0MIR204 CL E G H406987616722Retinal dystrophy and iris coloboma with or without congenital cataract616722C4225233OMIM14931582610942
HP:0007663HP:0007663Reduced visual acuity0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM13417105156845
HP:0007663HP:0007663Reduced visual acuity0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM13497105156845
HP:0007663HP:0007663Reduced visual acuity0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM134824525609831
HP:0007663HP:0007663Reduced visual acuity0MMACHC CL E G H25974277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM138524525609831
HP:0007663HP:0007663Reduced visual acuity0MMP19 CL E G H4327611543Cavitary optic disc anomalies611543C1969063OMIM1217165601807
HP:0007663HP:0007663Reduced visual acuity0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM136715625608025
HP:0007663HP:0007663Reduced visual acuity0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM191515625608025
HP:0007663HP:0007663Reduced visual acuity0NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM12457678300658
HP:0007663HP:0007663Reduced visual acuity0NDP CL E G H4693305390Familial exudative vitreoretinopathy, X-linked305390C1844579OMIM12637678300658
HP:0007663HP:0007663Reduced visual acuity0NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM11747975132890
HP:0007663HP:0007663Reduced visual acuity0NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM11967975132890
HP:0007663HP:0007663Reduced visual acuity0NYX CL E G H60506215Rudd Klimek syndromeORPHA13178082300278
HP:0007663HP:0007663Reduced visual acuity0NYX CL E G H60506215Rudd Klimek syndromeORPHA13808082300278
HP:0007663HP:0007663Reduced visual acuity0OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM16628101611409
HP:0007663HP:0007663Reduced visual acuity0OCA2 CL E G H4948203200Tyrosinase-positive oculocutaneous albinism203200C0268495OMIM18518101611409
HP:0007663HP:0007663Reduced visual acuity0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM14258108300535
HP:0007663HP:0007663Reduced visual acuity0OCRL CL E G H4952309000Lowe syndrome309000C0028860OMIM14758108300535
HP:0007663HP:0007663Reduced visual acuity0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM15988140605290
HP:0007663HP:0007663Reduced visual acuity0OPA1 CL E G H4976125250Autosomal dominant optic atrophy plus syndrome125250C1852267OMIM17398140605290
HP:0007663HP:0007663Reduced visual acuity0OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM15988140605290
HP:0007663HP:0007663Reduced visual acuity0OPA1 CL E G H4976165500Dominant hereditary optic atrophy165500C0338508OMIM17398140605290
HP:0007663HP:0007663Reduced visual acuity0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM13728142606580
HP:0007663HP:0007663Reduced visual acuity0OPA3 CL E G H802072585013-Methylglutaconic aciduria type 3258501C0574084OMIM14018142606580
HP:0007663HP:0007663Reduced visual acuity0OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM13728142606580
HP:0007663HP:0007663Reduced visual acuity0OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM14018142606580
HP:0007663HP:0007663Reduced visual acuity0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM12649936300822
HP:0007663HP:0007663Reduced visual acuity0OPN1LW CL E G H5956303700Cone monochromatism303700C0339537OMIM12719936300822
HP:0007663HP:0007663Reduced visual acuity0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM12554206300821
HP:0007663HP:0007663Reduced visual acuity0OPN1MW CL E G H2652303700Cone monochromatism303700C0339537OMIM12604206300821
HP:0007663HP:0007663Reduced visual acuity0PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM15778620607108
HP:0007663HP:0007663Reduced visual acuity0PAX6 CL E G H5080120200Congenital ocular coloboma120200C0009363OMIM16328620607108
HP:0007663HP:0007663Reduced visual acuity0PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM15778620607108
HP:0007663HP:0007663Reduced visual acuity0PAX6 CL E G H5080165550Optic nerve hypoplasia, bilateral165550C1833797OMIM16328620607108
HP:0007663HP:0007663Reduced visual acuity0PDE6B CL E G H5158215Rudd Klimek syndromeORPHA16988786180072
HP:0007663HP:0007663Reduced visual acuity0PDE6B CL E G H5158215Rudd Klimek syndromeORPHA18498786180072
HP:0007663HP:0007663Reduced visual acuity0PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM13298787600827
HP:0007663HP:0007663Reduced visual acuity0PDE6C CL E G H5146613093Cone dystrophy 4613093C2751308OMIM14108787600827
HP:0007663HP:0007663Reduced visual acuity0PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1748790601190
HP:0007663HP:0007663Reduced visual acuity0PDE6H CL E G H5149610024Retinal cone dystrophy 3A610024C1864900OMIM1808790601190
HP:0007663HP:0007663Reduced visual acuity0PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM146821043608921
HP:0007663HP:0007663Reduced visual acuity0PITPNM3 CL E G H83394600977Cone-rod dystrophy 5600977C1832976OMIM156421043608921
HP:0007663HP:0007663Reduced visual acuity0POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM115030836614784
HP:0007663HP:0007663Reduced visual acuity0POC1B CL E G H282809615973Cone-rod dystrophy 20615973C4014856OMIM122030836614784
HP:0007663HP:0007663Reduced visual acuity0POMGNT1 CL E G H55624617123Retinitis pigmentosa 76617123C4310704OMIM166219139606822
HP:0007663HP:0007663Reduced visual acuity0POMGNT1 CL E G H55624617123Retinitis pigmentosa 76617123C4310704OMIM179719139606822
HP:0007663HP:0007663Reduced visual acuity0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM119226267615247
HP:0007663HP:0007663Reduced visual acuity0POMK CL E G H84197615249Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12615249C3808964OMIM122426267615247
HP:0007663HP:0007663Reduced visual acuity0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM123517652300651
HP:0007663HP:0007663Reduced visual acuity0PORCN CL E G H64840305600Focal dermal hypoplasia305600C0016395OMIM124517652300651
HP:0007663HP:0007663Reduced visual acuity0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1319352176763
HP:0007663HP:0007663Reduced visual acuity0PRDX1 CL E G H5052277400Methylmalonic acidemia with homocystinuria277400C1848561OMIM1359352176763
HP:0007663HP:0007663Reduced visual acuity0PRIMPOL CL E G H201973615420Myopia 22, autosomal dominant615420C3809464OMIM110726575615421
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM15099454604365
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842608051Bull's eye macular dystrophy608051C0339512OMIM16439454604365
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842612657Cone-rod dystrophy 12612657C2675210OMIM15099454604365
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842612657Cone-rod dystrophy 12612657C2675210OMIM16439454604365
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA15099454604365
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842827Stargardt diseaseC0271093ORPHA16439454604365
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842603786Stargardt disease 4603786C1863534OMIM15099454604365
HP:0007663HP:0007663Reduced visual acuity0PROM1 CL E G H8842603786Stargardt disease 4603786C1863534OMIM16439454604365
HP:0007663HP:0007663Reduced visual acuity0PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM129315446606419
HP:0007663HP:0007663Reduced visual acuity0PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM141315446606419
HP:0007663HP:0007663Reduced visual acuity0PRPF6 CL E G H24148613983Retinitis pigmentosa 60613983C3151434OMIM127815860613979
HP:0007663HP:0007663Reduced visual acuity0PRPF6 CL E G H24148613983Retinitis pigmentosa 60613983C3151434OMIM134215860613979
HP:0007663HP:0007663Reduced visual acuity0PRPH2 CL E G H5961608161Macular dystrophy, vitelliform, adult-onset608161C1842914OMIM15279942179605
HP:0007663HP:0007663Reduced visual acuity0PRPH2 CL E G H5961608161Macular dystrophy, vitelliform, adult-onset608161C1842914OMIM15929942179605
HP:0007663HP:0007663Reduced visual acuity0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15279942179605
HP:0007663HP:0007663Reduced visual acuity0PRPH2 CL E G H5961827Stargardt diseaseC0271093ORPHA15929942179605
HP:0007663HP:0007663Reduced visual acuity0PUF60 CL E G H22827508488ORPHA115117042604819
HP:0007663HP:0007663Reduced visual acuity0PUF60 CL E G H22827508488ORPHA116317042604819
HP:0007663HP:0007663Reduced visual acuity0RBP3 CL E G H5949615233Retinitis pigmentosa 66615233C3715216OMIM15839921180290
HP:0007663HP:0007663Reduced visual acuity0RBP3 CL E G H5949615233Retinitis pigmentosa 66615233C3715216OMIM17639921180290
HP:0007663HP:0007663Reduced visual acuity0RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM1929922180250
HP:0007663HP:0007663Reduced visual acuity0RBP4 CL E G H5950615147Retinal dystrophy, iris coloboma, and comedogenic acne syndrome615147C3554593OMIM11169922180250
HP:0007663HP:0007663Reduced visual acuity0RCBTB1 CL E G H55213617175Retinal dystrophy with or without extraocular anomalies617175C4310680OMIM122218243607867
HP:0007663HP:0007663Reduced visual acuity0RCBTB1 CL E G H55213617175Retinal dystrophy with or without extraocular anomalies617175C4310680OMIM129218243607867
HP:0007663HP:0007663Reduced visual acuity0REEP6 CL E G H92840617304Retinitis pigmentosa 77617304C4310626OMIM114030078609346
HP:0007663HP:0007663Reduced visual acuity0REEP6 CL E G H92840617304Retinitis pigmentosa 77617304C4310626OMIM118330078609346
HP:0007663HP:0007663Reduced visual acuity0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM123330220611908
HP:0007663HP:0007663Reduced visual acuity0RFT1 CL E G H91869612015Congenital disorder of glycosylation type 1N612015C2677590OMIM132430220611908
HP:0007663HP:0007663Reduced visual acuity0RHO CL E G H6010215Rudd Klimek syndromeORPHA136810012180380
HP:0007663HP:0007663Reduced visual acuity0RHO CL E G H6010215Rudd Klimek syndromeORPHA143810012180380
HP:0007663HP:0007663Reduced visual acuity0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM180210295312610
HP:0007663HP:0007663Reduced visual acuity0RPGR CL E G H6103304020Cone-rod dystrophy, X-linked 1304020C1844776OMIM184710295312610
HP:0007663HP:0007663Reduced visual acuity0RPGR CL E G H6103300834Macular degeneration, X-linked atrophic300834C3151784OMIM180210295312610
HP:0007663HP:0007663Reduced visual acuity0RPGR CL E G H6103300834Macular degeneration, X-linked atrophic300834C3151784OMIM184710295312610
HP:0007663HP:0007663Reduced visual acuity0RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM157013436605446
HP:0007663HP:0007663Reduced visual acuity0RPGRIP1 CL E G H57096608194Cone-rod dystrophy 13608194C2750720OMIM170813436605446
HP:0007663HP:0007663Reduced visual acuity0RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM116118647610502
HP:0007663HP:0007663Reduced visual acuity0RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM121518647610502
HP:0007663HP:0007663Reduced visual acuity0SAG CL E G H6295215Rudd Klimek syndromeORPHA123010521181031
HP:0007663HP:0007663Reduced visual acuity0SAG CL E G H6295215Rudd Klimek syndromeORPHA129610521181031
HP:0007663HP:0007663Reduced visual acuity0SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM14410526602219
HP:0007663HP:0007663Reduced visual acuity0SALL2 CL E G H6297216820Ocular coloboma, autosomal recessive216820C4011974OMIM14510526602219
HP:0007663HP:0007663Reduced visual acuity0SCAPER CL E G H49855618195INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA618195OMIM18613081611611
HP:0007663HP:0007663Reduced visual acuity0SCAPER CL E G H49855618195INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA618195OMIM18713081611611
HP:0007663HP:0007663Reduced visual acuity0SH3BP2 CL E G H6452118400Fibrous dysplasia of jaw118400C0008029OMIM151210825602104
HP:0007663HP:0007663Reduced visual acuity0SH3BP2 CL E G H6452118400Fibrous dysplasia of jaw118400C0008029OMIM158710825602104
HP:0007663HP:0007663Reduced visual acuity0SLC24A1 CL E G H9187215Rudd Klimek syndromeORPHA130710975603617
HP:0007663HP:0007663Reduced visual acuity0SLC24A1 CL E G H9187215Rudd Klimek syndromeORPHA144110975603617
HP:0007663HP:0007663Reduced visual acuity0SLC24A5 CL E G H283652370097ORPHA14520611609802
HP:0007663HP:0007663Reduced visual acuity0SLC24A5 CL E G H283652370097ORPHA17820611609802
HP:0007663HP:0007663Reduced visual acuity0SLC24A5 CL E G H283652113750Skin/hair/eye pigmentation, variation in, 4113750C2676042OMIM14520611609802
HP:0007663HP:0007663Reduced visual acuity0SLC24A5 CL E G H283652113750Skin/hair/eye pigmentation, variation in, 4113750C2676042OMIM17820611609802
HP:0007663HP:0007663Reduced visual acuity0SLC38A8 CL E G H146167609218Foveal hypoplasia 2609218C1836603OMIM115032434615585
HP:0007663HP:0007663Reduced visual acuity0SLC38A8 CL E G H146167609218Foveal hypoplasia 2609218C1836603OMIM115732434615585
HP:0007663HP:0007663Reduced visual acuity0SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM113620858608736
HP:0007663HP:0007663Reduced visual acuity0SLC39A14 CL E G H23516144755Hyperostosis cranialis interna144755C1840404OMIM115120858608736
HP:0007663HP:0007663Reduced visual acuity0SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM147916438610206
HP:0007663HP:0007663Reduced visual acuity0SLC4A11 CL E G H83959217400Corneal dystrophy and perceptive deafness217400C1857572OMIM153316438610206
HP:0007663HP:0007663Reduced visual acuity0TACSTD2 CL E G H4070204870Lattice corneal dystrophy Type III204870C0339273OMIM17211530137290
HP:0007663HP:0007663Reduced visual acuity0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM126529944610083
HP:0007663HP:0007663Reduced visual acuity0TENM3 CL E G H55714615145Microphthalmia, isolated, with coloboma 9615145C3554592OMIM126729944610083
HP:0007663HP:0007663Reduced visual acuity0TGFBI CL E G H7045607541Avellino corneal dystrophy607541C1275685OMIM112311771601692
HP:0007663HP:0007663Reduced visual acuity0TGFBI CL E G H7045607541Avellino corneal dystrophy607541C1275685OMIM112611771601692
HP:0007663HP:0007663Reduced visual acuity0TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM112311771601692
HP:0007663HP:0007663Reduced visual acuity0TGFBI CL E G H7045608471Lattice corneal dystrophy type 3A608471C1837974OMIM112611771601692
HP:0007663HP:0007663Reduced visual acuity0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM120111817300356
HP:0007663HP:0007663Reduced visual acuity0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM121111817300356
HP:0007663HP:0007663Reduced visual acuity0TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM110825382612988
HP:0007663HP:0007663Reduced visual acuity0TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM113025382612988
HP:0007663HP:0007663Reduced visual acuity0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM18277146603576
HP:0007663HP:0007663Reduced visual acuity0TRPM1 CL E G H4308613216Congenital stationary night blindness, type 1C613216C2750747OMIM110267146603576
HP:0007663HP:0007663Reduced visual acuity0TRPM1 CL E G H4308215Rudd Klimek syndromeORPHA18277146603576
HP:0007663HP:0007663Reduced visual acuity0TRPM1 CL E G H4308215Rudd Klimek syndromeORPHA110267146603576
HP:0007663HP:0007663Reduced visual acuity0TTC8 CL E G H123016613464Retinitis pigmentosa 51613464C3150715OMIM120420087608132
HP:0007663HP:0007663Reduced visual acuity0TTC8 CL E G H123016613464Retinitis pigmentosa 51613464C3150715OMIM127520087608132
HP:0007663HP:0007663Reduced visual acuity0TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM120012406601197
HP:0007663HP:0007663Reduced visual acuity0TUB CL E G H7275616188Retinal dystrophy and obesity616188C4015424OMIM129012406601197
HP:0007663HP:0007663Reduced visual acuity0TUBA3D CL E G H113457617928KERATOCONUS 9617928CN244547OMIM14324071617878
HP:0007663HP:0007663Reduced visual acuity0TUBA3D CL E G H113457617928KERATOCONUS 9617928CN244547OMIM14524071617878
HP:0007663HP:0007663Reduced visual acuity0TUBB4B CL E G H10383617879LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS617879CN807950OMIM17920771602660
HP:0007663HP:0007663Reduced visual acuity0TUBB4B CL E G H10383617879LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS617879CN807950OMIM18520771602660
HP:0007663HP:0007663Reduced visual acuity0TUBGCP4 CL E G H27229616335Microcephaly and chorioretinopathy, autosomal recessive, 3616335C4225362OMIM122316691609610
HP:0007663HP:0007663Reduced visual acuity0TUBGCP4 CL E G H27229616335Microcephaly and chorioretinopathy, autosomal recessive, 3616335C4225362OMIM129116691609610
HP:0007663HP:0007663Reduced visual acuity0TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM125912442606933
HP:0007663HP:0007663Reduced visual acuity0TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM135812442606933
HP:0007663HP:0007663Reduced visual acuity0TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM125912442606933
HP:0007663HP:0007663Reduced visual acuity0TYR CL E G H7299203100Tyrosinase-negative oculocutaneous albinism203100C0268494OMIM135812442606933
HP:0007663HP:0007663Reduced visual acuity0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM17214583608549
HP:0007663HP:0007663Reduced visual acuity0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM110514583608549
HP:0007663HP:0007663Reduced visual acuity0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM126112183607817
HP:0007663HP:0007663Reduced visual acuity0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM131822183607817
HP:0007663HP:0007663Reduced visual acuity0WDR19 CL E G H57728616307Senior-Loken syndrome 8616307C4225376OMIM147718340608151
HP:0007663HP:0007663Reduced visual acuity0WDR19 CL E G H57728616307Senior-Loken syndrome 8616307C4225376OMIM164218340608151
HP:0007663HP:0007663Reduced visual acuity0ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM14611642189909
HP:0007663HP:0007663Reduced visual acuity0ZEB1 CL E G H6935613270Corneal dystrophy, Fuchs endothelial, 6613270C2750448OMIM14711642189909
HP:0007663HP:0007663Reduced visual acuity0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1126420761612012
HP:0007663HP:0007663Reduced visual acuity0ZFYVE26 CL E G H23503270700Spastic paraplegia 15270700C1849128OMIM1145720761612012
HP:0007663HP:0007663Reduced visual acuity0ZNF408 CL E G H79797616469Retinitis pigmentosa 72616469C4225315OMIM121920041616454
HP:0007663HP:0007663Reduced visual acuity0ZNF408 CL E G H79797616469Retinitis pigmentosa 72616469C4225315OMIM131920041616454
HP:0007663HP:0000646Amblyopia1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0007663HP:0000646Amblyopia1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0007663HP:0000618Blindness1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0007663HP:0000618Blindness1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0007663HP:0032037Mildly reduced visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0007663HP:0032037Mildly reduced visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0007663HP:0030515Moderately reduced visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0007663HP:0030515Moderately reduced visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0007663HP:0001141Severely reduced visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0007663HP:0001141Severely reduced visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0007663HP:0001117Sudden loss of visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0007663HP:0001117Sudden loss of visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0007663HP:0032123Ultra-low vision1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0007663HP:0032123Ultra-low vision1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0007663HP:0032122Very low visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0007663HP:0032122Very low visual acuity1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0007663HP:0030532Visual acuity test abnormality1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1212834601691
HP:0007663HP:0030532Visual acuity test abnormality1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM1253434601691
HP:0007663HP:0000646Amblyopia1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007663HP:0000646Amblyopia1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007663HP:0000618Blindness1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007663HP:0000618Blindness1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007663HP:0032037Mildly reduced visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007663HP:0032037Mildly reduced visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007663HP:0030515Moderately reduced visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007663HP:0030515Moderately reduced visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007663HP:0001141Severely reduced visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007663HP:0001141Severely reduced visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007663HP:0001117Sudden loss of visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007663HP:0001117Sudden loss of visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007663HP:0032123Ultra-low vision1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007663HP:0032123Ultra-low vision1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007663HP:0032122Very low visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007663HP:0032122Very low visual acuity1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007663HP:0030532Visual acuity test abnormality1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1212834601691
HP:0007663HP:0030532Visual acuity test abnormality1ABCA4 CL E G H24827Stargardt diseaseC0271093ORPHA1253434601691
HP:0007663HP:0000646Amblyopia1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0007663HP:0000646Amblyopia1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0007663HP:0000618Blindness1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0007663HP:0000618Blindness1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0007663HP:0032037Mildly reduced visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0007663HP:0032037Mildly reduced visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0007663HP:0030515Moderately reduced visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0007663HP:0030515Moderately reduced visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0007663HP:0001141Severely reduced visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0007663HP:0001141Severely reduced visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0007663HP:0001117Sudden loss of visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0007663HP:0001117Sudden loss of visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0007663HP:0032123Ultra-low vision1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0007663HP:0032123Ultra-low vision1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0007663HP:0032122Very low visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0007663HP:0032122Very low visual acuity1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0007663HP:0030532Visual acuity test abnormality1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM191457603234
HP:0007663HP:0030532Visual acuity test abnormality1ABCC6 CL E G H368264800Pseudoxanthoma elasticum264800C0033847OMIM1113757603234
HP:0007663HP:0000646Amblyopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0007663HP:0000646Amblyopia1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0007663HP:0000618Blindness1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0007663HP:0000618Blindness1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0007663HP:0032037Mildly reduced visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0007663HP:0032037Mildly reduced visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0007663HP:0030515Moderately reduced visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0007663HP:0030515Moderately reduced visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0007663HP:0001141Severely reduced visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0007663HP:0001141Severely reduced visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0007663HP:0001117Sudden loss of visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0007663HP:0001117Sudden loss of visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0007663HP:0032123Ultra-low vision1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0007663HP:0032123Ultra-low vision1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0007663HP:0032122Very low visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0007663HP:0032122Very low visual acuity1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0007663HP:0030532Visual acuity test abnormality1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM191457603234
HP:0007663HP:0030532Visual acuity test abnormality1ABCC6 CL E G H368177850Pseudoxanthoma elasticum, forme fruste177850C1867450OMIM1113757603234
HP:0007663HP:0000646Amblyopia1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0007663HP:0000646Amblyopia1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0007663HP:0000618Blindness1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0007663HP:0000618Blindness1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0007663HP:0032037Mildly reduced visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0007663HP:0032037Mildly reduced visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0007663HP:0030515Moderately reduced visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0007663HP:0030515Moderately reduced visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0007663HP:0001141Severely reduced visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0007663HP:0001141Severely reduced visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0007663HP:0001117Sudden loss of visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0007663HP:0001117Sudden loss of visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0007663HP:0032123Ultra-low vision1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0007663HP:0032123Ultra-low vision1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0007663HP:0032122Very low visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0007663HP:0032122Very low visual acuity1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0007663HP:0030532Visual acuity test abnormality1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1284118100850
HP:0007663HP:0030532Visual acuity test abnormality1ACO2 CL E G H50616289Optic atrophy 9616289C4225384OMIM1410118100850
HP:0007663HP:0000646Amblyopia1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0007663HP:0000646Amblyopia1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0007663HP:0000618Blindness1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0007663HP:0000618Blindness1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0007663HP:0032037Mildly reduced visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0007663HP:0032037Mildly reduced visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0007663HP:0030515Moderately reduced visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0007663HP:0030515Moderately reduced visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0007663HP:0001141Severely reduced visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0007663HP:0001141Severely reduced visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0007663HP:0001117Sudden loss of visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0007663HP:0001117Sudden loss of visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0007663HP:0032123Ultra-low vision1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0007663HP:0032123Ultra-low vision1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0007663HP:0032122Very low visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0007663HP:0032122Very low visual acuity1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0007663HP:0030532Visual acuity test abnormality1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1315359604392
HP:0007663HP:0030532Visual acuity test abnormality1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM1374359604392
HP:0007663HP:0000646Amblyopia1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0007663HP:0000646Amblyopia1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0007663HP:0000618Blindness1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0007663HP:0000618Blindness1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0007663HP:0032037Mildly reduced visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0007663HP:0032037Mildly reduced visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0007663HP:0030515Moderately reduced visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0007663HP:0030515Moderately reduced visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0007663HP:0001141Severely reduced visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0007663HP:0001141Severely reduced visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0007663HP:0001117Sudden loss of visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0007663HP:0001117Sudden loss of visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0007663HP:0032123Ultra-low vision1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0007663HP:0032123Ultra-low vision1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0007663HP:0032122Very low visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0007663HP:0032122Very low visual acuity1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0007663HP:0030532Visual acuity test abnormality1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1641360607358
HP:0007663HP:0030532Visual acuity test abnormality1AIRE CL E G H326240300Polyglandular autoimmune syndrome, type 1240300C0085859OMIM1718360607358
HP:0007663HP:0000646Amblyopia1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0007663HP:0000646Amblyopia1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0007663HP:0000618Blindness1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0007663HP:0000618Blindness1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0007663HP:0032037Mildly reduced visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0007663HP:0032037Mildly reduced visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0007663HP:0030515Moderately reduced visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0007663HP:0030515Moderately reduced visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0007663HP:0001141Severely reduced visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0007663HP:0001141Severely reduced visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0007663HP:0001117Sudden loss of visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0007663HP:0001117Sudden loss of visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0007663HP:0032123Ultra-low vision1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0007663HP:0032123Ultra-low vision1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0007663HP:0032122Very low visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0007663HP:0032122Very low visual acuity1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0007663HP:0030532Visual acuity test abnormality1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1356566603401
HP:0007663HP:0030532Visual acuity test abnormality1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM1467566603401
HP:0007663HP:0000646Amblyopia1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0007663HP:0000646Amblyopia1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0007663HP:0000618Blindness1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0007663HP:0000618Blindness1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0007663HP:0032037Mildly reduced visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0007663HP:0032037Mildly reduced visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0007663HP:0030515Moderately reduced visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0007663HP:0030515Moderately reduced visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0007663HP:0001141Severely reduced visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0007663HP:0001141Severely reduced visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0007663HP:0001117Sudden loss of visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0007663HP:0001117Sudden loss of visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0007663HP:0032123Ultra-low vision1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0007663HP:0032123Ultra-low vision1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0007663HP:0032122Very low visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0007663HP:0032122Very low visual acuity1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0007663HP:0030532Visual acuity test abnormality1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM137617090616432
HP:0007663HP:0030532Visual acuity test abnormality1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM151917090616432
HP:0007663HP:0000646Amblyopia1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0007663HP:0000646Amblyopia1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0007663HP:0000618Blindness1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0007663HP:0000618Blindness1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0007663HP:0032037Mildly reduced visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0007663HP:0032037Mildly reduced visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0007663HP:0030515Moderately reduced visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0007663HP:0030515Moderately reduced visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0007663HP:0001141Severely reduced visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0007663HP:0001141Severely reduced visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0007663HP:0001117Sudden loss of visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0007663HP:0001117Sudden loss of visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0007663HP:0032123Ultra-low vision1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0007663HP:0032123Ultra-low vision1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0007663HP:0032122Very low visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0007663HP:0032122Very low visual acuity1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0007663HP:0030532Visual acuity test abnormality1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM15117146615407
HP:0007663HP:0030532Visual acuity test abnormality1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM17417146615407
HP:0007663HP:0000646Amblyopia1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0007663HP:0000646Amblyopia1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0007663HP:0000618Blindness1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0007663HP:0000618Blindness1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0007663HP:0032037Mildly reduced visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0007663HP:0032037Mildly reduced visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0007663HP:0030515Moderately reduced visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0007663HP:0030515Moderately reduced visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0007663HP:0001141Severely reduced visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0007663HP:0001141Severely reduced visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0007663HP:0001117Sudden loss of visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0007663HP:0001117Sudden loss of visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0007663HP:0032123Ultra-low vision1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0007663HP:0032123Ultra-low vision1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0007663HP:0032122Very low visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0007663HP:0032122Very low visual acuity1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0007663HP:0030532Visual acuity test abnormality1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM164694604695
HP:0007663HP:0030532Visual acuity test abnormality1ARL3 CL E G H403618173RETINITIS PIGMENTOSA 83618173OMIM190694604695
HP:0007663HP:0000646Amblyopia1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0007663HP:0000646Amblyopia1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0007663HP:0000618Blindness1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0007663HP:0000618Blindness1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0007663HP:0032037Mildly reduced visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0007663HP:0032037Mildly reduced visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0007663HP:0030515Moderately reduced visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0007663HP:0030515Moderately reduced visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0007663HP:0001141Severely reduced visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0007663HP:0001141Severely reduced visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0007663HP:0001117Sudden loss of visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0007663HP:0001117Sudden loss of visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0007663HP:0032123Ultra-low vision1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0007663HP:0032123Ultra-low vision1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0007663HP:0032122Very low visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0007663HP:0032122Very low visual acuity1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0007663HP:0030532Visual acuity test abnormality1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM149912703607854
HP:0007663HP:0030532Visual acuity test abnormality1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM159512703607854
HP:0007663HP:0000646Amblyopia1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0007663HP:0000646Amblyopia1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0007663HP:0000618Blindness1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0007663HP:0000618Blindness1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0007663HP:0032037Mildly reduced visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0007663HP:0032037Mildly reduced visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0007663HP:0030515Moderately reduced visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0007663HP:0030515Moderately reduced visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0007663HP:0001141Severely reduced visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0007663HP:0001141Severely reduced visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0007663HP:0001117Sudden loss of visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0007663HP:0001117Sudden loss of visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0007663HP:0032123Ultra-low vision1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0007663HP:0032123Ultra-low vision1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0007663HP:0032122Very low visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0007663HP:0032122Very low visual acuity1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0007663HP:0030532Visual acuity test abnormality1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM149912703607854
HP:0007663HP:0030532Visual acuity test abnormality1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM159512703607854
HP:0007663HP:0000646Amblyopia1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0007663HP:0000646Amblyopia1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0007663HP:0000618Blindness1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0007663HP:0000618Blindness1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0007663HP:0032037Mildly reduced visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0007663HP:0032037Mildly reduced visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0007663HP:0030515Moderately reduced visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0007663HP:0030515Moderately reduced visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0007663HP:0001141Severely reduced visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0007663HP:0001141Severely reduced visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0007663HP:0001117Sudden loss of visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0007663HP:0001117Sudden loss of visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0007663HP:0032123Ultra-low vision1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0007663HP:0032123Ultra-low vision1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0007663HP:0032122Very low visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0007663HP:0032122Very low visual acuity1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0007663HP:0030532Visual acuity test abnormality1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM149912703607854
HP:0007663HP:0030532Visual acuity test abnormality1BEST1 CL E G H7439153700Vitelliform macular dystrophy type 2153700C0339510OMIM159512703607854
HP:0007663HP:0000646Amblyopia1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0007663HP:0000646Amblyopia1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0007663HP:0000618Blindness1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0007663HP:0000618Blindness1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0007663HP:0032037Mildly reduced visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0007663HP:0032037Mildly reduced visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0007663HP:0030515Moderately reduced visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0007663HP:0030515Moderately reduced visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0007663HP:0001141Severely reduced visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0007663HP:0001141Severely reduced visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0007663HP:0001117Sudden loss of visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0007663HP:0001117Sudden loss of visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0007663HP:0032123Ultra-low vision1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0007663HP:0032123Ultra-low vision1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0007663HP:0032122Very low visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0007663HP:0032122Very low visual acuity1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0007663HP:0030532Visual acuity test abnormality1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM13520914609762
HP:0007663HP:0030532Visual acuity test abnormality1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM16820914609762
HP:0007663HP:0000646Amblyopia1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0007663HP:0000618Blindness1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0007663HP:0032037Mildly reduced visual acuity1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0007663HP:0030515Moderately reduced visual acuity1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0007663HP:0001141Severely reduced visual acuity1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0007663HP:0001117Sudden loss of visual acuity1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0007663HP:0032123Ultra-low vision1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0007663HP:0032122Very low visual acuity1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0007663HP:0030532Visual acuity test abnormality1C12orf65 CL E G H91574320375ORPHA126784613541
HP:0007663HP:0000646Amblyopia1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0007663HP:0000618Blindness1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0007663HP:0032037Mildly reduced visual acuity1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0007663HP:0030515Moderately reduced visual acuity1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0007663HP:0001141Severely reduced visual acuity1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0007663HP:0001117Sudden loss of visual acuity1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0007663HP:0032123Ultra-low vision1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0007663HP:0032122Very low visual acuity1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0007663HP:0030532Visual acuity test abnormality1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM127232614477
HP:0007663HP:0000646Amblyopia1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA12521386608965
HP:0007663HP:0000646Amblyopia1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA13121386608965
HP:0007663HP:0000618Blindness1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA12521386608965
HP:0007663HP:0000618Blindness1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA13121386608965
HP:0007663HP:0032037Mildly reduced visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA12521386608965
HP:0007663HP:0032037Mildly reduced visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA13121386608965
HP:0007663HP:0030515Moderately reduced visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA12521386608965
HP:0007663HP:0030515Moderately reduced visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA13121386608965
HP:0007663HP:0001141Severely reduced visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA12521386608965
HP:0007663HP:0001141Severely reduced visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA13121386608965
HP:0007663HP:0001117Sudden loss of visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA12521386608965
HP:0007663HP:0001117Sudden loss of visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA13121386608965
HP:0007663HP:0032123Ultra-low vision1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA12521386608965
HP:0007663HP:0032123Ultra-low vision1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA13121386608965
HP:0007663HP:0032122Very low visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA12521386608965
HP:0007663HP:0032122Very low visual acuity1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA13121386608965
HP:0007663HP:0030532Visual acuity test abnormality1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA12521386608965
HP:0007663HP:0030532Visual acuity test abnormality1CABP4 CL E G H57010215Rudd Klimek syndromeORPHA13121386608965
HP:0007663HP:0000646Amblyopia1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0007663HP:0000646Amblyopia1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0007663HP:0000618Blindness1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0007663HP:0000618Blindness1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0007663HP:0001141Severely reduced visual acuity1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0007663HP:0001141Severely reduced visual acuity1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0007663HP:0032123Ultra-low vision1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0007663HP:0032123Ultra-low vision1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0007663HP:0032122Very low visual acuity1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0007663HP:0032122Very low visual acuity1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0007663HP:0030532Visual acuity test abnormality1CACNA1F CL E G H778178333ORPHA16581393300110
HP:0007663HP:0030532Visual acuity test abnormality1CACNA1F CL E G H778178333ORPHA18181393300110
HP:0007663HP:0000646Amblyopia1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0007663HP:0000646Amblyopia1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0007663HP:0000618Blindness1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0007663HP:0000618Blindness1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0007663HP:0001141Severely reduced visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0007663HP:0001141Severely reduced visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0007663HP:0032123Ultra-low vision1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0007663HP:0032123Ultra-low vision1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0007663HP:0032122Very low visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0007663HP:0032122Very low visual acuity1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0007663HP:0030532Visual acuity test abnormality1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM16581393300110
HP:0007663HP:0030532Visual acuity test abnormality1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM18181393300110
HP:0007663HP:0000646Amblyopia1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0007663HP:0000646Amblyopia1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0007663HP:0000618Blindness1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0007663HP:0000618Blindness1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0007663HP:0001141Severely reduced visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0007663HP:0001141Severely reduced visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0007663HP:0032123Ultra-low vision1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0007663HP:0032123Ultra-low vision1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0007663HP:0032122Very low visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0007663HP:0032122Very low visual acuity1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0007663HP:0030532Visual acuity test abnormality1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM16581393300110
HP:0007663HP:0030532Visual acuity test abnormality1CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM18181393300110
HP:0007663HP:0000646Amblyopia1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA16581393300110
HP:0007663HP:0000646Amblyopia1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA18181393300110
HP:0007663HP:0000618Blindness1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA16581393300110
HP:0007663HP:0000618Blindness1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA18181393300110
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA16581393300110
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA18181393300110
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA16581393300110
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA18181393300110
HP:0007663HP:0001141Severely reduced visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA16581393300110
HP:0007663HP:0001141Severely reduced visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA18181393300110
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA16581393300110
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA18181393300110
HP:0007663HP:0032123Ultra-low vision1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA16581393300110
HP:0007663HP:0032123Ultra-low vision1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA18181393300110
HP:0007663HP:0032122Very low visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA16581393300110
HP:0007663HP:0032122Very low visual acuity1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA18181393300110
HP:0007663HP:0030532Visual acuity test abnormality1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA16581393300110
HP:0007663HP:0030532Visual acuity test abnormality1CACNA1F CL E G H778215Rudd Klimek syndromeORPHA18181393300110
HP:0007663HP:0000646Amblyopia1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007663HP:0000646Amblyopia1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007663HP:0000618Blindness1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007663HP:0000618Blindness1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007663HP:0001141Severely reduced visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007663HP:0001141Severely reduced visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007663HP:0032123Ultra-low vision1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007663HP:0032123Ultra-low vision1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007663HP:0032122Very low visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007663HP:0032122Very low visual acuity1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007663HP:0030532Visual acuity test abnormality1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM159320202608171
HP:0007663HP:0030532Visual acuity test abnormality1CACNA2D4 CL E G H93589610478Retinal cone dystrophy 4610478C1864849OMIM175720202608171
HP:0007663HP:0000646Amblyopia1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA159320202608171
HP:0007663HP:0000646Amblyopia1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA175720202608171
HP:0007663HP:0000618Blindness1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA159320202608171
HP:0007663HP:0000618Blindness1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA175720202608171
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA159320202608171
HP:0007663HP:0032037Mildly reduced visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA175720202608171
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA159320202608171
HP:0007663HP:0030515Moderately reduced visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA175720202608171
HP:0007663HP:0001141Severely reduced visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA159320202608171
HP:0007663HP:0001141Severely reduced visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA175720202608171
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA159320202608171
HP:0007663HP:0001117Sudden loss of visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA175720202608171
HP:0007663HP:0032123Ultra-low vision1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA159320202608171
HP:0007663HP:0032123Ultra-low vision1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA175720202608171
HP:0007663HP:0032122Very low visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA159320202608171
HP:0007663HP:0032122Very low visual acuity1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA175720202608171
HP:0007663HP:0030532Visual acuity test abnormality1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA159320202608171
HP:0007663HP:0030532Visual acuity test abnormality1CACNA2D4 CL E G H93589215Rudd Klimek syndromeORPHA175720202608171
HP:0007663HP:0000646Amblyopia1CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM1153529021610142
HP:0007663HP:0000646Amblyopia1CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM1190229021610142
HP:0007663HP:0000618Blindness1CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM1153529021610142
HP:0007663HP:0000618Blindness1CEP290 CL E G H80184610189Senior-Loken syndrome 6610189C1857779OMIM1190229021610142
HP:0007663HP:0032037Mildly reduced visual acuity1CEP290 CL