Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the eye (HP:0000478)help
Parent Node:
expand
Abnormal eye physiology (HP:0012373)help
..Starting node
..expand
Abnormality of vision (HP:0000504)help
Term ID: 504
Name: Abnormality of vision
Synonym: Abnormality of sight; Abnormality of vision; Vision issue
Definition: Abnormality of eyesight (visual perception).
Comments:
Reference: HP:0000504
Genes and Diseases:
 
       Child Nodes:
........expandVisual impairment (HP:0000505) help
................... HP:0000618 Blindness
................... HP:0001141 Severe visual impairment
................... HP:0007758 Congenital visual impairment
................... HP:0030515 Moderate visual impairment
................... HP:0100704 Cortical visual impairment
........expandAbnormality of color vision (HP:0000551) help
................... HP:0007641 Dyschromatopsia
................... HP:0007803 Monochromacy
................... HP:0030584 Color vision test abnormality
........expandVisual loss (HP:0000572) help
................... HP:0000529 Progressive visual loss
................... HP:0200068 Nonprogressive visual loss
........expandPhotophobia (HP:0000613) help
........expandBlurred vision (HP:0000622) help
................... HP:0001125 Transient unilateral blurring of vision
........expandNyctalopia (HP:0000662) help
................... HP:0007642 Congenital stationary night blindness
................... HP:0007675 Progressive night blindness
................... HP:0007830 Adult-onset night blindness
........expandVisual field defect (HP:0001123) help
................... HP:0000575 Scotoma
................... HP:0001129 Large central visual field defect
................... HP:0001133 Constriction of peripheral visual field
................... HP:0007854 Glaucomatous visual field defect
................... HP:0007987 Progressive visual field defects
................... HP:0012377 Hemianopia
................... HP:0030531 Altitudinal visual field defect
................... HP:0030588 Abnormal visual field test
................... HP:0030644 Blind-spot enlargment
........expandReduced visual acuity (HP:0007663) help
................... HP:0000646 Amblyopia
................... HP:0001117 Sudden loss of visual acuity
................... HP:0030532 Visual acuity test abnormality
........expandAbnormality of binocular vision (HP:0011514) help
................... HP:0000651 Diplopia
................... HP:0011515 Abnormal stereopsis
........expandHemeralopia (HP:0012047) help
........expandMetamorphopsia (HP:0012508) help
........expandPoor visual behavior for age (HP:0025152) help
........expandBradyopsia (HP:0030511) help
........expandDifficulty adjusting to changes in luminance (HP:0030512) help
................... HP:0030513 Difficulty adjusting from light to dark
................... HP:0030514 Difficulty adjusting from dark to light
........expandPhotopsia (HP:0030786) help
........expandAmaurosis fugax (HP:0100576) help
........expandVitreous floaters (HP:0100832) help
................... HP:0030832 Vitreous strands

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000504HP:0000504Abnormality of vision0ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0000504Abnormality of vision0ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0000504Abnormality of vision0ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0000504Abnormality of vision0ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0000504Abnormality of vision0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0000504Abnormality of vision0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0000504Abnormality of vision0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0000504Abnormality of vision0BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0000504Abnormality of vision0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0000504Abnormality of vision0BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0000504Abnormality of vision0BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0000504Abnormality of vision0CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0000504Abnormality of vision0CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0000504Abnormality of vision0CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0000504Abnormality of vision0CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0000504Abnormality of vision0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0000504Abnormality of vision0CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0000504Abnormality of vision0CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0000504Abnormality of vision0CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0000504Abnormality of vision0CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0000504Abnormality of vision0CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0000504Abnormality of vision0CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0000504Abnormality of vision0DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0000504Abnormality of vision0DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0000504Abnormality of vision0DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0000504Abnormality of vision0DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0000504Abnormality of vision0EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0000504Abnormality of vision0EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0000504Abnormality of vision0EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0000504Abnormality of vision0EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0000504Abnormality of vision0FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0000504Abnormality of vision0FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0000504Abnormality of vision0HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0000504Abnormality of vision0HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0000504Abnormality of vision0HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0000504Abnormality of vision0HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0000504Abnormality of vision0HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0000504Abnormality of vision0HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0000504Abnormality of vision0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0000504Abnormality of vision0HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0000504Abnormality of vision0KCNQ2 CL E G H3785306ORPHA113806296602235
HP:0000504HP:0000504Abnormality of vision0KCNQ2 CL E G H3785306ORPHA115346296602235
HP:0000504HP:0000504Abnormality of vision0KCNQ3 CL E G H3786306ORPHA18866297602232
HP:0000504HP:0000504Abnormality of vision0KCNQ3 CL E G H3786306ORPHA19776297602232
HP:0000504HP:0000504Abnormality of vision0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13316407190070
HP:0000504HP:0000504Abnormality of vision0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA13416407190070
HP:0000504HP:0000504Abnormality of vision0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA13316407190070
HP:0000504HP:0000504Abnormality of vision0KRAS CL E G H38452612Heart defect, tongue hamartoma and polysyndactylyORPHA13416407190070
HP:0000504HP:0000504Abnormality of vision0LIFR CL E G H39773206ORPHA15546597151443
HP:0000504HP:0000504Abnormality of vision0LIFR CL E G H39773206ORPHA16106597151443
HP:0000504HP:0000504Abnormality of vision0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13066840176872
HP:0000504HP:0000504Abnormality of vision0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA13366840176872
HP:0000504HP:0000504Abnormality of vision0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA14526842601263
HP:0000504HP:0000504Abnormality of vision0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA15156842601263
HP:0000504HP:0000504Abnormality of vision0MOG CL E G H43402073ORPHA1167197159465
HP:0000504HP:0000504Abnormality of vision0MPDU1 CL E G H952679323ORPHA1957207604041
HP:0000504HP:0000504Abnormality of vision0MPDU1 CL E G H952679323ORPHA11007207604041
HP:0000504HP:0000504Abnormality of vision0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12127989164790
HP:0000504HP:0000504Abnormality of vision0NRAS CL E G H48932612Heart defect, tongue hamartoma and polysyndactylyORPHA12267989164790
HP:0000504HP:0000504Abnormality of vision0P2RY11 CL E G H50322073ORPHA1318540602697
HP:0000504HP:0000504Abnormality of vision0P2RY11 CL E G H50322073ORPHA1328540602697
HP:0000504HP:0000504Abnormality of vision0PAX3 CL E G H5077894ORPHA12568617606597
HP:0000504HP:0000504Abnormality of vision0PAX3 CL E G H5077894ORPHA12768617606597
HP:0000504HP:0000504Abnormality of vision0PAX6 CL E G H50802253ORPHA15778620607108
HP:0000504HP:0000504Abnormality of vision0PAX6 CL E G H50802253ORPHA16328620607108
HP:0000504HP:0000504Abnormality of vision0PLG CL E G H5340722ORPHA11599071173350
HP:0000504HP:0000504Abnormality of vision0PLG CL E G H5340722ORPHA11659071173350
HP:0000504HP:0000504Abnormality of vision0PRRT2 CL E G H112476306ORPHA159730500614386
HP:0000504HP:0000504Abnormality of vision0PRRT2 CL E G H112476306ORPHA165930500614386
HP:0000504HP:0000504Abnormality of vision0RS1 CL E G H6247792ORPHA155110457300839
HP:0000504HP:0000504Abnormality of vision0RS1 CL E G H6247792ORPHA162210457300839
HP:0000504HP:0000504Abnormality of vision0SCN2A CL E G H6326306ORPHA1147910588182390
HP:0000504HP:0000504Abnormality of vision0SCN2A CL E G H6326306ORPHA1167010588182390
HP:0000504HP:0000504Abnormality of vision0SCN8A CL E G H6334306ORPHA1111910596600702
HP:0000504HP:0000504Abnormality of vision0SCN8A CL E G H6334306ORPHA1128510596600702
HP:0000504HP:0000504Abnormality of vision0SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM124510848600725
HP:0000504HP:0000504Abnormality of vision0SHH CL E G H6469611638Microphthalmia, isolated, with coloboma 5611638C1968843OMIM128310848600725
HP:0000504HP:0000504Abnormality of vision0SLC25A24 CL E G H299572095ORPHA17320662608744
HP:0000504HP:0000504Abnormality of vision0SLC25A24 CL E G H299572095ORPHA17820662608744
HP:0000504HP:0000504Abnormality of vision0SOX10 CL E G H6663897ORPHA124711190602229
HP:0000504HP:0000504Abnormality of vision0SOX10 CL E G H6663897ORPHA127311190602229
HP:0000504HP:0000504Abnormality of vision0TNFSF4 CL E G H72922073ORPHA13511934603594
HP:0000504HP:0000504Abnormality of vision0TNFSF4 CL E G H72922073ORPHA13711934603594
HP:0000504HP:0000504Abnormality of vision0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA121312307604507
HP:0000504HP:0000504Abnormality of vision0TRIP13 CL E G H93191052Mosaic variegated aneuploidy syndromeC1850343ORPHA121912307604507
HP:0000504HP:0000504Abnormality of vision0VPS13A CL E G H232302388ORPHA112461908605978
HP:0000504HP:0000504Abnormality of vision0VPS13A CL E G H232302388ORPHA113741908605978
HP:0000504HP:0000504Abnormality of vision0ZNF365 CL E G H228912073ORPHA14518194607818
HP:0000504HP:0100832Vitreous floaters1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0100832Vitreous floaters1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0032036Abnormal contrast sensitivity1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0032036Abnormal contrast sensitivity1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0011514Abnormality of binocular vision1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0011514Abnormality of binocular vision1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0100576Amaurosis fugax1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0100576Amaurosis fugax1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0000622Blurred vision1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0000622Blurred vision1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0030511Bradyopsia1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0030511Bradyopsia1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0000551Color vision defect1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0000551Color vision defect1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0012047Hemeralopia1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0012047Hemeralopia1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0012508Metamorphopsia1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0012508Metamorphopsia1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0000662Nyctalopia1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0000662Nyctalopia1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0000613Photophobia1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0000613Photophobia1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0030786Photopsia1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0030786Photopsia1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0025152Poor visual behavior for age1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0025152Poor visual behavior for age1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0000505Visual impairment1ALG3 CL E G H1019579321ORPHA115923056608750
HP:0000504HP:0000505Visual impairment1ALG3 CL E G H1019579321ORPHA116623056608750
HP:0000504HP:0100832Vitreous floaters1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0100832Vitreous floaters1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0032036Abnormal contrast sensitivity1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0032036Abnormal contrast sensitivity1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0011514Abnormality of binocular vision1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0011514Abnormality of binocular vision1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0100576Amaurosis fugax1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0100576Amaurosis fugax1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0000622Blurred vision1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0000622Blurred vision1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0030511Bradyopsia1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0030511Bradyopsia1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0000551Color vision defect1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0000551Color vision defect1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0012047Hemeralopia1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0012047Hemeralopia1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0012508Metamorphopsia1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0012508Metamorphopsia1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0000662Nyctalopia1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0000662Nyctalopia1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0000613Photophobia1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0000613Photophobia1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0030786Photopsia1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0030786Photopsia1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0025152Poor visual behavior for age1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0025152Poor visual behavior for age1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0000505Visual impairment1ARID1B CL E G H57492251056ORPHA186618040614556
HP:0000504HP:0000505Visual impairment1ARID1B CL E G H57492251056ORPHA195818040614556
HP:0000504HP:0100832Vitreous floaters1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0100832Vitreous floaters1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0032036Abnormal contrast sensitivity1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0032036Abnormal contrast sensitivity1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0011514Abnormality of binocular vision1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0011514Abnormality of binocular vision1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0100576Amaurosis fugax1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0100576Amaurosis fugax1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0000622Blurred vision1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0000622Blurred vision1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0030511Bradyopsia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0030511Bradyopsia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0000551Color vision defect1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0000551Color vision defect1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0012047Hemeralopia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0012047Hemeralopia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0012508Metamorphopsia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0012508Metamorphopsia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0000662Nyctalopia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0000662Nyctalopia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0000613Photophobia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0000613Photophobia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0030786Photopsia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0030786Photopsia1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0025152Poor visual behavior for age1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0025152Poor visual behavior for age1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0000505Visual impairment1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16181097164757
HP:0000504HP:0000505Visual impairment1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA16801097164757
HP:0000504HP:0100832Vitreous floaters1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0100832Vitreous floaters1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0032036Abnormal contrast sensitivity1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0032036Abnormal contrast sensitivity1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0011514Abnormality of binocular vision1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0011514Abnormality of binocular vision1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0100576Amaurosis fugax1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0100576Amaurosis fugax1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0000622Blurred vision1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0000622Blurred vision1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0030511Bradyopsia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0030511Bradyopsia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0000551Color vision defect1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0000551Color vision defect1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0012047Hemeralopia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0012047Hemeralopia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0012508Metamorphopsia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0012508Metamorphopsia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0000662Nyctalopia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0000662Nyctalopia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0000613Photophobia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0000613Photophobia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0030786Photopsia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0030786Photopsia1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0025152Poor visual behavior for age1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0025152Poor visual behavior for age1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0000505Visual impairment1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1861148602452
HP:0000504HP:0000505Visual impairment1BUB1 CL E G H6991052Mosaic variegated aneuploidy syndromeC1850343ORPHA1881148602452
HP:0000504HP:0100832Vitreous floaters1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0100832Vitreous floaters1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0032036Abnormal contrast sensitivity1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0032036Abnormal contrast sensitivity1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0011514Abnormality of binocular vision1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0011514Abnormality of binocular vision1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0100576Amaurosis fugax1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0100576Amaurosis fugax1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0000622Blurred vision1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0000622Blurred vision1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0030511Bradyopsia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0030511Bradyopsia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0000551Color vision defect1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0000551Color vision defect1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0012047Hemeralopia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0012047Hemeralopia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0012508Metamorphopsia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0012508Metamorphopsia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0000662Nyctalopia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0000662Nyctalopia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0000613Photophobia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0000613Photophobia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0030786Photopsia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0030786Photopsia1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0025152Poor visual behavior for age1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0025152Poor visual behavior for age1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0000505Visual impairment1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA15111149602860
HP:0000504HP:0000505Visual impairment1BUB1B CL E G H7011052Mosaic variegated aneuploidy syndromeC1850343ORPHA16171149602860
HP:0000504HP:0100832Vitreous floaters1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0032036Abnormal contrast sensitivity1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0011514Abnormality of binocular vision1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0100576Amaurosis fugax1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0000622Blurred vision1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0030511Bradyopsia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0000551Color vision defect1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0012047Hemeralopia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0012508Metamorphopsia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0000662Nyctalopia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0000613Photophobia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0030786Photopsia1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0025152Poor visual behavior for age1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0000505Visual impairment1BUB3 CL E G H91841052Mosaic variegated aneuploidy syndromeC1850343ORPHA1511151603719
HP:0000504HP:0100832Vitreous floaters1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0100832Vitreous floaters1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0032036Abnormal contrast sensitivity1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0032036Abnormal contrast sensitivity1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0011514Abnormality of binocular vision1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0011514Abnormality of binocular vision1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0100576Amaurosis fugax1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0100576Amaurosis fugax1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0000622Blurred vision1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0000622Blurred vision1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0030511Bradyopsia1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0030511Bradyopsia1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0000551Color vision defect1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0000551Color vision defect1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0012047Hemeralopia1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0012047Hemeralopia1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0012508Metamorphopsia1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0012508Metamorphopsia1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0000662Nyctalopia1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0000662Nyctalopia1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0000613Photophobia1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0000613Photophobia1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0030786Photopsia1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0030786Photopsia1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0025152Poor visual behavior for age1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0025152Poor visual behavior for age1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0000505Visual impairment1CDH1 CL E G H9991997ORPHA128181748192090
HP:0000504HP:0000505Visual impairment1CDH1 CL E G H9991997ORPHA130461748192090
HP:0000504HP:0100832Vitreous floaters1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0100832Vitreous floaters1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0032036Abnormal contrast sensitivity1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0032036Abnormal contrast sensitivity1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0011514Abnormality of binocular vision1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0011514Abnormality of binocular vision1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0100576Amaurosis fugax1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0100576Amaurosis fugax1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0000622Blurred vision1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0000622Blurred vision1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0030511Bradyopsia1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0030511Bradyopsia1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0000551Color vision defect1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0000551Color vision defect1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0012047Hemeralopia1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0012047Hemeralopia1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0012508Metamorphopsia1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0012508Metamorphopsia1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0000662Nyctalopia1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0000662Nyctalopia1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0000613Photophobia1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0000613Photophobia1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0030786Photopsia1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0030786Photopsia1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0025152Poor visual behavior for age1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0025152Poor visual behavior for age1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0000505Visual impairment1CDH3 CL E G H10011897ORPHA14101762114021
HP:0000504HP:0000505Visual impairment1CDH3 CL E G H10011897ORPHA15231762114021
HP:0000504HP:0100832Vitreous floaters1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0100832Vitreous floaters1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0032036Abnormal contrast sensitivity1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0032036Abnormal contrast sensitivity1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0011514Abnormality of binocular vision1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0011514Abnormality of binocular vision1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0100576Amaurosis fugax1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0100576Amaurosis fugax1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0000622Blurred vision1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0000622Blurred vision1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0030511Bradyopsia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0030511Bradyopsia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0000551Color vision defect1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0000551Color vision defect1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0012047Hemeralopia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0012047Hemeralopia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0012508Metamorphopsia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0012508Metamorphopsia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0000662Nyctalopia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0000662Nyctalopia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0000613Photophobia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0000613Photophobia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0030786Photopsia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0030786Photopsia1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0025152Poor visual behavior for age1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0025152Poor visual behavior for age1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0000505Visual impairment1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA121230794607951
HP:0000504HP:0000505Visual impairment1CEP57 CL E G H97021052Mosaic variegated aneuploidy syndromeC1850343ORPHA127530794607951
HP:0000504HP:0100832Vitreous floaters1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0100832Vitreous floaters1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0032036Abnormal contrast sensitivity1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0032036Abnormal contrast sensitivity1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0011514Abnormality of binocular vision1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0011514Abnormality of binocular vision1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0100576Amaurosis fugax1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0100576Amaurosis fugax1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0000622Blurred vision1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0000622Blurred vision1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0030511Bradyopsia1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0030511Bradyopsia1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0000551Color vision defect1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0000551Color vision defect1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0012047Hemeralopia1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0012047Hemeralopia1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0012508Metamorphopsia1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0012508Metamorphopsia1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0000662Nyctalopia1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0000662Nyctalopia1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0000613Photophobia1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0000613Photophobia1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0030786Photopsia1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0030786Photopsia1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0025152Poor visual behavior for age1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0025152Poor visual behavior for age1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0000505Visual impairment1CTNND1 CL E G H15001997ORPHA1572515601045
HP:0000504HP:0000505Visual impairment1CTNND1 CL E G H15001997ORPHA1612515601045
HP:0000504HP:0100832Vitreous floaters1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0032036Abnormal contrast sensitivity1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0011514Abnormality of binocular vision1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0100576Amaurosis fugax1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0000622Blurred vision1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0030511Bradyopsia1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0000551Color vision defect1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0012047Hemeralopia1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0012508Metamorphopsia1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0000662Nyctalopia1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0000613Photophobia1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0030786Photopsia1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0025152Poor visual behavior for age1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0000505Visual impairment1CTSH CL E G H15122073ORPHA1272535116820
HP:0000504HP:0100832Vitreous floaters1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0100832Vitreous floaters1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0032036Abnormal contrast sensitivity1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0032036Abnormal contrast sensitivity1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0011514Abnormality of binocular vision1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0011514Abnormality of binocular vision1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0100576Amaurosis fugax1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0100576Amaurosis fugax1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0000622Blurred vision1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0000622Blurred vision1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0030511Bradyopsia1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0030511Bradyopsia1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0000551Color vision defect1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0000551Color vision defect1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0012047Hemeralopia1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0012047Hemeralopia1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0012508Metamorphopsia1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0012508Metamorphopsia1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0000662Nyctalopia1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0000662Nyctalopia1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0000613Photophobia1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0000613Photophobia1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0030786Photopsia1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0030786Photopsia1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0025152Poor visual behavior for age1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0025152Poor visual behavior for age1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0000505Visual impairment1CYP27A1 CL E G H1593909ORPHA14392605606530
HP:0000504HP:0000505Visual impairment1CYP27A1 CL E G H1593909ORPHA15992605606530
HP:0000504HP:0100832Vitreous floaters1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0100832Vitreous floaters1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0032036Abnormal contrast sensitivity1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0032036Abnormal contrast sensitivity1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0011514Abnormality of binocular vision1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0011514Abnormality of binocular vision1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0100576Amaurosis fugax1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0100576Amaurosis fugax1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0000622Blurred vision1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0000622Blurred vision1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0030511Bradyopsia1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0030511Bradyopsia1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0000551Color vision defect1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0000551Color vision defect1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0012047Hemeralopia1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0012047Hemeralopia1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0012508Metamorphopsia1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0012508Metamorphopsia1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0000662Nyctalopia1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0000662Nyctalopia1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0000613Photophobia1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0000613Photophobia1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0030786Photopsia1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0030786Photopsia1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0025152Poor visual behavior for age1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0025152Poor visual behavior for age1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0000505Visual impairment1DPM1 CL E G H881379322ORPHA11563005603503
HP:0000504HP:0000505Visual impairment1DPM1 CL E G H881379322ORPHA11883005603503
HP:0000504HP:0100832Vitreous floaters1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0100832Vitreous floaters1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0032036Abnormal contrast sensitivity1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0032036Abnormal contrast sensitivity1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0011514Abnormality of binocular vision1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0011514Abnormality of binocular vision1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0100576Amaurosis fugax1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0100576Amaurosis fugax1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0000622Blurred vision1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0000622Blurred vision1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0030511Bradyopsia1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0030511Bradyopsia1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0000551Color vision defect1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0000551Color vision defect1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0012047Hemeralopia1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0012047Hemeralopia1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0012508Metamorphopsia1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0012508Metamorphopsia1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0000662Nyctalopia1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0000662Nyctalopia1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0000613Photophobia1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0000613Photophobia1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0030786Photopsia1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0030786Photopsia1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0025152Poor visual behavior for age1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0025152Poor visual behavior for age1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0000505Visual impairment1DPYD CL E G H1806293948ORPHA13383012612779
HP:0000504HP:0000505Visual impairment1DPYD CL E G H1806293948ORPHA13403012612779
HP:0000504HP:0100832Vitreous floaters1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0100832Vitreous floaters1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0032036Abnormal contrast sensitivity1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0032036Abnormal contrast sensitivity1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0011514Abnormality of binocular vision1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0011514Abnormality of binocular vision1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0100576Amaurosis fugax1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0100576Amaurosis fugax1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0000622Blurred vision1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0000622Blurred vision1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0030511Bradyopsia1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0030511Bradyopsia1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0000551Color vision defect1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0000551Color vision defect1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0012047Hemeralopia1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0012047Hemeralopia1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0012508Metamorphopsia1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0012508Metamorphopsia1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0000662Nyctalopia1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0000662Nyctalopia1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0000613Photophobia1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0000613Photophobia1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0030786Photopsia1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0030786Photopsia1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0025152Poor visual behavior for age1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0025152Poor visual behavior for age1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0000505Visual impairment1EDN3 CL E G H1908897ORPHA11383178131242
HP:0000504HP:0000505Visual impairment1EDN3 CL E G H1908897ORPHA11493178131242
HP:0000504HP:0100832Vitreous floaters1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0100832Vitreous floaters1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0032036Abnormal contrast sensitivity1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0032036Abnormal contrast sensitivity1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0011514Abnormality of binocular vision1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0011514Abnormality of binocular vision1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0100576Amaurosis fugax1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0100576Amaurosis fugax1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0000622Blurred vision1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0000622Blurred vision1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0030511Bradyopsia1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0030511Bradyopsia1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0000551Color vision defect1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0000551Color vision defect1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0012047Hemeralopia1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0012047Hemeralopia1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0012508Metamorphopsia1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0012508Metamorphopsia1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0000662Nyctalopia1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0000662Nyctalopia1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0000613Photophobia1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0000613Photophobia1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0030786Photopsia1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0030786Photopsia1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0025152Poor visual behavior for age1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0025152Poor visual behavior for age1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0000505Visual impairment1EDNRB CL E G H1910897ORPHA12333180131244
HP:0000504HP:0000505Visual impairment1EDNRB CL E G H1910897ORPHA12583180131244
HP:0000504HP:0100832Vitreous floaters1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0100832Vitreous floaters1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0032036Abnormal contrast sensitivity1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0032036Abnormal contrast sensitivity1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0011514Abnormality of binocular vision1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0011514Abnormality of binocular vision1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0100576Amaurosis fugax1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0100576Amaurosis fugax1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0000622Blurred vision1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0000622Blurred vision1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0030511Bradyopsia1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0030511Bradyopsia1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0000551Color vision defect1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0000551Color vision defect1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0012047Hemeralopia1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0012047Hemeralopia1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0012508Metamorphopsia1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0012508Metamorphopsia1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0000662Nyctalopia1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0000662Nyctalopia1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0000613Photophobia1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0000613Photophobia1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0030786Photopsia1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0030786Photopsia1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0025152Poor visual behavior for age1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0025152Poor visual behavior for age1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0000505Visual impairment1FOXE3 CL E G H230183461ORPHA11523808601094
HP:0000504HP:0000505Visual impairment1FOXE3 CL E G H230183461ORPHA11763808601094
HP:0000504HP:0100832Vitreous floaters1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0100832Vitreous floaters1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0032036Abnormal contrast sensitivity1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0032036Abnormal contrast sensitivity1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0011514Abnormality of binocular vision1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0011514Abnormality of binocular vision1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0100576Amaurosis fugax1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0100576Amaurosis fugax1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0000622Blurred vision1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0000622Blurred vision1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0030511Bradyopsia1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0030511Bradyopsia1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0000551Color vision defect1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0000551Color vision defect1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0012047Hemeralopia1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0012047Hemeralopia1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0012508Metamorphopsia1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0012508Metamorphopsia1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0000662Nyctalopia1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0000662Nyctalopia1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0000613Photophobia1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0000613Photophobia1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0030786Photopsia1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0030786Photopsia1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0025152Poor visual behavior for age1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0025152Poor visual behavior for age1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0000505Visual impairment1HCRT CL E G H30602073ORPHA194847602358
HP:0000504HP:0000505Visual impairment1HCRT CL E G H30602073ORPHA1104847602358
HP:0000504HP:0100832Vitreous floaters1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0100832Vitreous floaters1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0032036Abnormal contrast sensitivity1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0032036Abnormal contrast sensitivity1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0011514Abnormality of binocular vision1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0011514Abnormality of binocular vision1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0100576Amaurosis fugax1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0100576Amaurosis fugax1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0000622Blurred vision1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0000622Blurred vision1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0030511Bradyopsia1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0030511Bradyopsia1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0000551Color vision defect1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0000551Color vision defect1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0012047Hemeralopia1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0012047Hemeralopia1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0012508Metamorphopsia1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0012508Metamorphopsia1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0000662Nyctalopia1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0000662Nyctalopia1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0000613Photophobia1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0000613Photophobia1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0030786Photopsia1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0030786Photopsia1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0025152Poor visual behavior for age1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0025152Poor visual behavior for age1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0000505Visual impairment1HGD CL E G H308156ORPHA12094892607474
HP:0000504HP:0000505Visual impairment1HGD CL E G H308156ORPHA12314892607474
HP:0000504HP:0100832Vitreous floaters1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0032036Abnormal contrast sensitivity1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0011514Abnormality of binocular vision1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0100576Amaurosis fugax1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0000622Blurred vision1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0030511Bradyopsia1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0000551Color vision defect1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0012047Hemeralopia1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0012508Metamorphopsia1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0000662Nyctalopia1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0000613Photophobia1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0030786Photopsia1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0025152Poor visual behavior for age1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0000505Visual impairment1HLA-DQB1 CL E G H31192073ORPHA1124944604305
HP:0000504HP:0100832Vitreous floaters1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0032036Abnormal contrast sensitivity1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0011514Abnormality of binocular vision1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0100576Amaurosis fugax1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0000622Blurred vision1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0030511Bradyopsia1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0000551Color vision defect1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0012047Hemeralopia1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0012508Metamorphopsia1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0000662Nyctalopia1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0000613Photophobia1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0030786Photopsia1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0025152Poor visual behavior for age1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0000505Visual impairment1HLA-DRB1 CL E G H31232073ORPHA1244948142857
HP:0000504HP:0100832Vitreous floaters1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0100832Vitreous floaters1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0032036Abnormal contrast sensitivity1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0032036Abnormal contrast sensitivity1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0011514Abnormality of binocular vision1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0011514Abnormality of binocular vision1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0100576Amaurosis fugax1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0100576Amaurosis fugax1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0000622Blurred vision1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0000622Blurred vision1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0030511Bradyopsia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0030511Bradyopsia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0000551Color vision defect1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0000551Color vision defect1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0030512Difficulty adjusting to changes in luminance1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0012047Hemeralopia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0012047Hemeralopia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0012508Metamorphopsia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0012508Metamorphopsia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0000662Nyctalopia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0000662Nyctalopia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0000613Photophobia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0000613Photophobia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0030786Photopsia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0030786Photopsia1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0025152Poor visual behavior for age1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0025152Poor visual behavior for age1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0000505Visual impairment1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14115173190020
HP:0000504HP:0000505Visual impairment1HRAS CL E G H32652612Heart defect, tongue hamartoma and polysyndactylyORPHA14675173190020
HP:0000504HP:0100832Vitreous floaters1KCNQ2 CL E G H3785306ORPHA113806296602235
HP:0000504HP:0100832Vitreous floaters1KCNQ2 CL E G H3785306ORPHA115346296602235
HP:0000504HP:0032036Abnormal contrast sensitivity1KCNQ2 CL E G H3785306ORPHA113806296602235
HP:0000504HP:0032036Abnormal contrast sensitivity1KCNQ2 CL E G H3785306ORPHA115346296602235
HP:0000504HP:0011514Abnormality of binocular vision1KCNQ2 CL E G H3785306ORPHA113806296602235
HP:0000504HP:0011514Abnormality of binocular vision1KCNQ2 CL E G H3785306ORPHA115346296602235
HP:0000504HP:0100576Amaurosis fugax1KCNQ2 CL E G H3785306ORPHA113806296602235
HP:0000504HP:0100576Amaurosis fugax1KCNQ2 CL E G H3785306ORPHA115346296602235
HP:0000504HP:0000622Blurred vision1KCNQ2 CL E G H3785306ORPHA113806296602235
HP:0000504HP:0000622Blurred vision1KCNQ2 CL E G H3785306ORPHA115346296602235
HP:0000504HP:0030511Bradyopsia1KCNQ2 CL E G H3785306ORPHA113806296602235
HP:0000504