Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal eye physiology (HP:0012373)help
Parent Node:
expand
Abnormality of vision (HP:0000504)help
..Starting node
..expand
Visual loss (HP:0000572)help
Term ID: 572
Name: Visual loss
Synonym: Loss of vision; Vision loss; Visual loss
Definition: Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
Comments:
Reference: HP:0000572
Genes and Diseases:
 
       Child Nodes:
........expandProgressive visual loss (HP:0000529) help
................... HP:0007924 Slow decrease in visual acuity
........expandNonprogressive visual loss (HP:0200068) help

 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
..expandReduced visual acuity (HP:0007663) help
..expandVisual field defect (HP:0001123) help
..expandVisual impairment (HP:0000505) help
..expandVitreous floaters (HP:0100832) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000572HP:0000572Visual loss0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000572HP:0000572Visual loss0ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000572HP:0000572Visual loss0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM196661300371
HP:0000572HP:0000572Visual loss0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1106561300371
HP:0000572HP:0000572Visual loss0ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000572HP:0000572Visual loss0ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000572HP:0000572Visual loss0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0000572HP:0000572Visual loss0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0000572HP:0000572Visual loss0ARSG CL E G H22901231183ORPHA117424102610008
HP:0000572HP:0000572Visual loss0ARSG CL E G H22901231183ORPHA125024102610008
HP:0000572HP:0000572Visual loss0ASPA CL E G H443314911ORPHA1245756608034
HP:0000572HP:0000572Visual loss0ASPA CL E G H443314911ORPHA1281756608034
HP:0000572HP:0000572Visual loss0ATXN7 CL E G H631494147ORPHA13710560607640
HP:0000572HP:0000572Visual loss0ATXN7 CL E G H631494147ORPHA13910560607640
HP:0000572HP:0000572Visual loss0BAP1 CL E G H831439044ORPHA11514950603089
HP:0000572HP:0000572Visual loss0BAP1 CL E G H831439044ORPHA11683950603089
HP:0000572HP:0000572Visual loss0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0000572HP:0000572Visual loss0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0000572HP:0000572Visual loss0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000572HP:0000572Visual loss0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000572HP:0000572Visual loss0C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM141314344608752
HP:0000572HP:0000572Visual loss0C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM152114344608752
HP:0000572HP:0000572Visual loss0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0000572HP:0000572Visual loss0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0000572HP:0000572Visual loss0CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000572HP:0000572Visual loss0CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000572HP:0000572Visual loss0CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000572HP:0000572Visual loss0CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000572HP:0000572Visual loss0CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000572HP:0000572Visual loss0CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000572HP:0000572Visual loss0CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM13882025602727
HP:0000572HP:0000572Visual loss0CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM15492025602727
HP:0000572HP:0000572Visual loss0CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000572HP:0000572Visual loss0CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000572HP:0000572Visual loss0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM17612195120328
HP:0000572HP:0000572Visual loss0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM114972195120328
HP:0000572HP:0000572Visual loss0COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM18372202120130
HP:0000572HP:0000572Visual loss0COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM110102202120130
HP:0000572HP:0000572Visual loss0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0000572HP:0000572Visual loss0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0000572HP:0000572Visual loss0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14132529116840
HP:0000572HP:0000572Visual loss0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14652529116840
HP:0000572HP:0000572Visual loss0CYSLTR2 CL E G H5710539044ORPHA16518274605666
HP:0000572HP:0000572Visual loss0CYSLTR2 CL E G H5710539044ORPHA16718274605666
HP:0000572HP:0000572Visual loss0ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM14017233606421
HP:0000572HP:0000572Visual loss0ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM14117233606421
HP:0000572HP:0000572Visual loss0EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM12873413607566
HP:0000572HP:0000572Visual loss0EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13363413607566
HP:0000572HP:0000572Visual loss0FLVCR1 CL E G H2898288628ORPHA132624682609144
HP:0000572HP:0000572Visual loss0FLVCR1 CL E G H2898288628ORPHA139124682609144
HP:0000572HP:0000572Visual loss0FOXC1 CL E G H2296250923ORPHA12533800601090
HP:0000572HP:0000572Visual loss0FOXC1 CL E G H2296250923ORPHA13283800601090
HP:0000572HP:0000572Visual loss0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA18494171137295
HP:0000572HP:0000572Visual loss0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA19884171137295
HP:0000572HP:0000572Visual loss0GNA11 CL E G H276739044ORPHA11294379139313
HP:0000572HP:0000572Visual loss0GNA11 CL E G H276739044ORPHA11504379139313
HP:0000572HP:0000572Visual loss0GNAQ CL E G H277639044ORPHA1744390600998
HP:0000572HP:0000572Visual loss0GNAQ CL E G H277639044ORPHA1754390600998
HP:0000572HP:0000572Visual loss0HADHA CL E G H30305ORPHA14774801600890
HP:0000572HP:0000572Visual loss0HADHA CL E G H30305ORPHA15274801600890
HP:0000572HP:0000572Visual loss0HARS CL E G H3035231183ORPHA14816142810
HP:0000572HP:0000572Visual loss0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1194931142800
HP:0000572HP:0000572Visual loss0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0000572HP:0000572Visual loss0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0000572HP:0000572Visual loss0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0000572HP:0000572Visual loss0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0000572HP:0000572Visual loss0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM185129077614620
HP:0000572HP:0000572Visual loss0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1109829077614620
HP:0000572HP:0000572Visual loss0KIF1A CL E G H5472836ORPHA11441888601255
HP:0000572HP:0000572Visual loss0KIF1A CL E G H5472836ORPHA11735888601255
HP:0000572HP:0000572Visual loss0LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM14326494604349
HP:0000572HP:0000572Visual loss0LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM18356494604349
HP:0000572HP:0000572Visual loss0LSS CL E G H4047616509Cataract 44616509C4225300OMIM12326708600909
HP:0000572HP:0000572Visual loss0LSS CL E G H4047616509Cataract 44616509C4225300OMIM12466708600909
HP:0000572HP:0000572Visual loss0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM151828486611124
HP:0000572HP:0000572Visual loss0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM159528486611124
HP:0000572HP:0000572Visual loss0MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0000572HP:0000572Visual loss0MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0000572HP:0000572Visual loss0MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0000572HP:0000572Visual loss0MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0000572HP:0000572Visual loss0MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0000572HP:0000572Visual loss0MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0000572HP:0000572Visual loss0MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0000572HP:0000572Visual loss0MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0000572HP:0000572Visual loss0MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0000572HP:0000572Visual loss0MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000572HP:0000572Visual loss0MYO7A CL E G H4647231169ORPHA122237606276903
HP:0000572HP:0000572Visual loss0MYO7A CL E G H4647231178ORPHA122237606276903
HP:0000572HP:0000572Visual loss0MYO7A CL E G H4647231169ORPHA125167606276903
HP:0000572HP:0000572Visual loss0MYO7A CL E G H4647231178ORPHA125167606276903
HP:0000572HP:0000572Visual loss0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM122237606276903
HP:0000572HP:0000572Visual loss0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM125167606276903
HP:0000572HP:0000572Visual loss0NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM124721576608072
HP:0000572HP:0000572Visual loss0NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM128921576608072
HP:0000572HP:0000572Visual loss0NHS CL E G H4810627ORPHA14057820300457
HP:0000572HP:0000572Visual loss0NHS CL E G H4810627ORPHA14217820300457
HP:0000572HP:0000572Visual loss0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM14057820300457
HP:0000572HP:0000572Visual loss0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM14217820300457
HP:0000572HP:0000572Visual loss0PAX6 CL E G H5080250923ORPHA15778620607108
HP:0000572HP:0000572Visual loss0PAX6 CL E G H5080250923ORPHA16328620607108
HP:0000572HP:0000572Visual loss0PCDH15 CL E G H65217231169ORPHA1170914674605514
HP:0000572HP:0000572Visual loss0PCDH15 CL E G H65217231169ORPHA1198514674605514
HP:0000572HP:0000572Visual loss0PCYT1A CL E G H513085167ORPHA12098754123695
HP:0000572HP:0000572Visual loss0PCYT1A CL E G H513085167ORPHA12618754123695
HP:0000572HP:0000572Visual loss0PDZD7 CL E G H79955231178ORPHA143326257612971
HP:0000572HP:0000572Visual loss0PDZD7 CL E G H79955231178ORPHA160726257612971
HP:0000572HP:0000572Visual loss0PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM12348855601789
HP:0000572HP:0000572Visual loss0PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM13428855601789
HP:0000572HP:0000572Visual loss0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM14319039603604
HP:0000572HP:0000572Visual loss0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15139039603604
HP:0000572HP:0000572Visual loss0POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM12169173312040
HP:0000572HP:0000572Visual loss0POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM13219173312040
HP:0000572HP:0000572Visual loss0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM114709179174763
HP:0000572HP:0000572Visual loss0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM117129179174763
HP:0000572HP:0000572Visual loss0PRDM5 CL E G H1110790354ORPHA11979349614161
HP:0000572HP:0000572Visual loss0PRDM5 CL E G H1110790354ORPHA12169349614161
HP:0000572HP:0000572Visual loss0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13039462311850
HP:0000572HP:0000572Visual loss0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13219462311850
HP:0000572HP:0000572Visual loss0SF3B1 CL E G H2345139044ORPHA16810768605590
HP:0000572HP:0000572Visual loss0SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM115510938603941
HP:0000572HP:0000572Visual loss0SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM116810938603941
HP:0000572HP:0000572Visual loss0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA172429090614982
HP:0000572HP:0000572Visual loss0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA185929090614982
HP:0000572HP:0000572Visual loss0SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM17113771605740
HP:0000572HP:0000572Visual loss0SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM18013771605740
HP:0000572HP:0000572Visual loss0SOX2 CL E G H665777298ORPHA115511195184429
HP:0000572HP:0000572Visual loss0SOX2 CL E G H665777298ORPHA116011195184429
HP:0000572HP:0000572Visual loss0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM117325812611715
HP:0000572HP:0000572Visual loss0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM118925812611715
HP:0000572HP:0000572Visual loss0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM124310872604402
HP:0000572HP:0000572Visual loss0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM128310872604402
HP:0000572HP:0000572Visual loss0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM166629203613577
HP:0000572HP:0000572Visual loss0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM173829203613577
HP:0000572HP:0000572Visual loss0TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM138711654606847
HP:0000572HP:0000572Visual loss0TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM143811654606847
HP:0000572HP:0000572Visual loss0TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM123711758602498
HP:0000572HP:0000572Visual loss0TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM126311758602498
HP:0000572HP:0000572Visual loss0TRIM44 CL E G H54765250923ORPHA12719016612298
HP:0000572HP:0000572Visual loss0TRIM44 CL E G H54765250923ORPHA12919016612298
HP:0000572HP:0000572Visual loss0USH1C CL E G H10083231169ORPHA173312597605242
HP:0000572HP:0000572Visual loss0USH1C CL E G H10083231169ORPHA181212597605242
HP:0000572HP:0000572Visual loss0USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM173312597605242
HP:0000572HP:0000572Visual loss0USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM181212597605242
HP:0000572HP:0000572Visual loss0USH1G CL E G H124590231169ORPHA124716356607696
HP:0000572HP:0000572Visual loss0USH1G CL E G H124590231169ORPHA130316356607696
HP:0000572HP:0000572Visual loss0USH2A CL E G H7399231178ORPHA1406112601608400
HP:0000572HP:0000572Visual loss0USH2A CL E G H7399231178ORPHA1482812601608400
HP:0000572HP:0000572Visual loss0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM17832464118661
HP:0000572HP:0000572Visual loss0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM111112464118661
HP:0000572HP:0000572Visual loss0WHRN CL E G H25861231178ORPHA150016361607928
HP:0000572HP:0000572Visual loss0WHRN CL E G H25861231178ORPHA162516361607928
HP:0000572HP:0000572Visual loss0XYLT2 CL E G H6413285194ORPHA18315517608125
HP:0000572HP:0000572Visual loss0XYLT2 CL E G H6413285194ORPHA113015517608125
HP:0000572HP:0000572Visual loss0ZNF469 CL E G H8462790354ORPHA191623216612078
HP:0000572HP:0000572Visual loss0ZNF469 CL E G H8462790354ORPHA1119023216612078
HP:0000572HP:0000572Visual loss0ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM191623216612078
HP:0000572HP:0000572Visual loss0ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM1119023216612078
HP:0000572HP:0000572Visual loss0ZNHIT3 CL E G H93262836ORPHA110812309604500
HP:0000572HP:0000572Visual loss0ZNHIT3 CL E G H93262836ORPHA110912309604500
HP:0000572HP:0000529Progressive visual loss1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000572HP:0200068Nonprogressive visual loss1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000572HP:0200068Nonprogressive visual loss1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000572HP:0000529Progressive visual loss1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000572HP:0000529Progressive visual loss1ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM196661300371
HP:0000572HP:0200068Nonprogressive visual loss1ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1106561300371
HP:0000572HP:0200068Nonprogressive visual loss1ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM196661300371
HP:0000572HP:0000529Progressive visual loss1ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1106561300371
HP:0000572HP:0000529Progressive visual loss1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000572HP:0200068Nonprogressive visual loss1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000572HP:0200068Nonprogressive visual loss1ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000572HP:0000529Progressive visual loss1ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000572HP:0000529Progressive visual loss1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0000572HP:0200068Nonprogressive visual loss1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0000572HP:0200068Nonprogressive visual loss1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0000572HP:0000529Progressive visual loss1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0000572HP:0000529Progressive visual loss1ARSG CL E G H22901231183ORPHA117424102610008
HP:0000572HP:0200068Nonprogressive visual loss1ARSG CL E G H22901231183ORPHA125024102610008
HP:0000572HP:0200068Nonprogressive visual loss1ARSG CL E G H22901231183ORPHA117424102610008
HP:0000572HP:0000529Progressive visual loss1ARSG CL E G H22901231183ORPHA125024102610008
HP:0000572HP:0000529Progressive visual loss1ASPA CL E G H443314911ORPHA1245756608034
HP:0000572HP:0200068Nonprogressive visual loss1ASPA CL E G H443314911ORPHA1281756608034
HP:0000572HP:0200068Nonprogressive visual loss1ASPA CL E G H443314911ORPHA1245756608034
HP:0000572HP:0000529Progressive visual loss1ASPA CL E G H443314911ORPHA1281756608034
HP:0000572HP:0000529Progressive visual loss1ATXN7 CL E G H631494147ORPHA13710560607640
HP:0000572HP:0200068Nonprogressive visual loss1ATXN7 CL E G H631494147ORPHA13910560607640
HP:0000572HP:0200068Nonprogressive visual loss1ATXN7 CL E G H631494147ORPHA13710560607640
HP:0000572HP:0000529Progressive visual loss1ATXN7 CL E G H631494147ORPHA13910560607640
HP:0000572HP:0000529Progressive visual loss1BAP1 CL E G H831439044ORPHA11514950603089
HP:0000572HP:0200068Nonprogressive visual loss1BAP1 CL E G H831439044ORPHA11683950603089
HP:0000572HP:0200068Nonprogressive visual loss1BAP1 CL E G H831439044ORPHA11514950603089
HP:0000572HP:0000529Progressive visual loss1BAP1 CL E G H831439044ORPHA11683950603089
HP:0000572HP:0000529Progressive visual loss1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0000572HP:0200068Nonprogressive visual loss1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0000572HP:0200068Nonprogressive visual loss1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0000572HP:0000529Progressive visual loss1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0000572HP:0000529Progressive visual loss1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000572HP:0200068Nonprogressive visual loss1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000572HP:0200068Nonprogressive visual loss1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000572HP:0000529Progressive visual loss1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000572HP:0000529Progressive visual loss1C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM141314344608752
HP:0000572HP:0200068Nonprogressive visual loss1C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM152114344608752
HP:0000572HP:0200068Nonprogressive visual loss1C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM141314344608752
HP:0000572HP:0000529Progressive visual loss1C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM152114344608752
HP:0000572HP:0000529Progressive visual loss1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0000572HP:0200068Nonprogressive visual loss1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0000572HP:0200068Nonprogressive visual loss1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0000572HP:0000529Progressive visual loss1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0000572HP:0000529Progressive visual loss1CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000572HP:0200068Nonprogressive visual loss1CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000572HP:0200068Nonprogressive visual loss1CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000572HP:0000529Progressive visual loss1CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000572HP:0000529Progressive visual loss1CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000572HP:0200068Nonprogressive visual loss1CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000572HP:0200068Nonprogressive visual loss1CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000572HP:0000529Progressive visual loss1CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000572HP:0000529Progressive visual loss1CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000572HP:0200068Nonprogressive visual loss1CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000572HP:0200068Nonprogressive visual loss1CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000572HP:0000529Progressive visual loss1CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000572HP:0000529Progressive visual loss1CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM13882025602727
HP:0000572HP:0200068Nonprogressive visual loss1CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM15492025602727
HP:0000572HP:0200068Nonprogressive visual loss1CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM13882025602727
HP:0000572HP:0000529Progressive visual loss1CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM15492025602727
HP:0000572HP:0000529Progressive visual loss1CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000572HP:0200068Nonprogressive visual loss1CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000572HP:0200068Nonprogressive visual loss1CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000572HP:0000529Progressive visual loss1CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000572HP:0000529Progressive visual loss1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM17612195120328
HP:0000572HP:0200068Nonprogressive visual loss1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM114972195120328
HP:0000572HP:0200068Nonprogressive visual loss1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM17612195120328
HP:0000572HP:0000529Progressive visual loss1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM114972195120328
HP:0000572HP:0000529Progressive visual loss1COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM18372202120130
HP:0000572HP:0200068Nonprogressive visual loss1COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM110102202120130
HP:0000572HP:0200068Nonprogressive visual loss1COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM18372202120130
HP:0000572HP:0000529Progressive visual loss1COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM110102202120130
HP:0000572HP:0000529Progressive visual loss1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0000572HP:0200068Nonprogressive visual loss1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0000572HP:0200068Nonprogressive visual loss1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0000572HP:0000529Progressive visual loss1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0000572HP:0000529Progressive visual loss1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14132529116840
HP:0000572HP:0200068Nonprogressive visual loss1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14652529116840
HP:0000572HP:0200068Nonprogressive visual loss1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14132529116840
HP:0000572HP:0000529Progressive visual loss1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14652529116840
HP:0000572HP:0000529Progressive visual loss1CYSLTR2 CL E G H5710539044ORPHA16518274605666
HP:0000572HP:0200068Nonprogressive visual loss1CYSLTR2 CL E G H5710539044ORPHA16718274605666
HP:0000572HP:0200068Nonprogressive visual loss1CYSLTR2 CL E G H5710539044ORPHA16518274605666
HP:0000572HP:0000529Progressive visual loss1CYSLTR2 CL E G H5710539044ORPHA16718274605666
HP:0000572HP:0000529Progressive visual loss1ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM14017233606421
HP:0000572HP:0200068Nonprogressive visual loss1ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM14117233606421
HP:0000572HP:0200068Nonprogressive visual loss1ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM14017233606421
HP:0000572HP:0000529Progressive visual loss1ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM14117233606421
HP:0000572HP:0000529Progressive visual loss1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM12873413607566
HP:0000572HP:0200068Nonprogressive visual loss1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13363413607566
HP:0000572HP:0200068Nonprogressive visual loss1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM12873413607566
HP:0000572HP:0000529Progressive visual loss1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13363413607566
HP:0000572HP:0000529Progressive visual loss1FLVCR1 CL E G H2898288628ORPHA132624682609144
HP:0000572HP:0200068Nonprogressive visual loss1FLVCR1 CL E G H2898288628ORPHA139124682609144
HP:0000572HP:0200068Nonprogressive visual loss1FLVCR1 CL E G H2898288628ORPHA132624682609144
HP:0000572HP:0000529Progressive visual loss1FLVCR1 CL E G H2898288628ORPHA139124682609144
HP:0000572HP:0000529Progressive visual loss1FOXC1 CL E G H2296250923ORPHA12533800601090
HP:0000572HP:0200068Nonprogressive visual loss1FOXC1 CL E G H2296250923ORPHA13283800601090
HP:0000572HP:0200068Nonprogressive visual loss1FOXC1 CL E G H2296250923ORPHA12533800601090
HP:0000572HP:0000529Progressive visual loss1FOXC1 CL E G H2296250923ORPHA13283800601090
HP:0000572HP:0000529Progressive visual loss1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA18494171137295
HP:0000572HP:0200068Nonprogressive visual loss1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA19884171137295
HP:0000572HP:0200068Nonprogressive visual loss1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA18494171137295
HP:0000572HP:0000529Progressive visual loss1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA19884171137295
HP:0000572HP:0000529Progressive visual loss1GNA11 CL E G H276739044ORPHA11294379139313
HP:0000572HP:0200068Nonprogressive visual loss1GNA11 CL E G H276739044ORPHA11504379139313
HP:0000572HP:0200068Nonprogressive visual loss1GNA11 CL E G H276739044ORPHA11294379139313
HP:0000572HP:0000529Progressive visual loss1GNA11 CL E G H276739044ORPHA11504379139313
HP:0000572HP:0000529Progressive visual loss1GNAQ CL E G H277639044ORPHA1744390600998
HP:0000572HP:0200068Nonprogressive visual loss1GNAQ CL E G H277639044ORPHA1754390600998
HP:0000572HP:0200068Nonprogressive visual loss1GNAQ CL E G H277639044ORPHA1744390600998
HP:0000572HP:0000529Progressive visual loss1GNAQ CL E G H277639044ORPHA1754390600998
HP:0000572HP:0000529Progressive visual loss1HADHA CL E G H30305ORPHA14774801600890
HP:0000572HP:0200068Nonprogressive visual loss1HADHA CL E G H30305ORPHA15274801600890
HP:0000572HP:0200068Nonprogressive visual loss1HADHA CL E G H30305ORPHA14774801600890
HP:0000572HP:0000529Progressive visual loss1HADHA CL E G H30305ORPHA15274801600890
HP:0000572HP:0000529Progressive visual loss1HARS CL E G H3035231183ORPHA14816142810
HP:0000572HP:0200068Nonprogressive visual loss1HARS CL E G H3035231183ORPHA14816142810
HP:0000572HP:0000529Progressive visual loss1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1194931142800
HP:0000572HP:0200068Nonprogressive visual loss1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1194931142800
HP:0000572HP:0000529Progressive visual loss1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0000572HP:0200068Nonprogressive visual loss1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0000572HP:0200068Nonprogressive visual loss1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0000572HP:0000529Progressive visual loss1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0000572HP:0000529Progressive visual loss1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0000572HP:0200068Nonprogressive visual loss1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0000572HP:0200068Nonprogressive visual loss1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0000572HP:0000529Progressive visual loss1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0000572HP:0000529Progressive visual loss1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM185129077614620
HP:0000572HP:0200068Nonprogressive visual loss1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1109829077614620
HP:0000572HP:0200068Nonprogressive visual loss1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM185129077614620
HP:0000572HP:0000529Progressive visual loss1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1109829077614620
HP:0000572HP:0000529Progressive visual loss1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000572HP:0200068Nonprogressive visual loss1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000572HP:0200068Nonprogressive visual loss1KIF1A CL E G H5472836ORPHA11441888601255
HP:0000572HP:0000529Progressive visual loss1KIF1A CL E G H5472836ORPHA11735888601255
HP:0000572HP:0000529Progressive visual loss1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM14326494604349
HP:0000572HP:0200068Nonprogressive visual loss1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM18356494604349
HP:0000572HP:0200068Nonprogressive visual loss1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM14326494604349
HP:0000572HP:0000529Progressive visual loss1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM18356494604349
HP:0000572HP:0000529Progressive visual loss1LSS CL E G H4047616509Cataract 44616509C4225300OMIM12326708600909
HP:0000572HP:0200068Nonprogressive visual loss1LSS CL E G H4047616509Cataract 44616509C4225300OMIM12466708600909
HP:0000572HP:0200068Nonprogressive visual loss1LSS CL E G H4047616509Cataract 44616509C4225300OMIM12326708600909
HP:0000572HP:0000529Progressive visual loss1LSS CL E G H4047616509Cataract 44616509C4225300OMIM12466708600909
HP:0000572HP:0000529Progressive visual loss1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM151828486611124
HP:0000572HP:0200068Nonprogressive visual loss1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM159528486611124
HP:0000572HP:0200068Nonprogressive visual loss1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM151828486611124
HP:0000572HP:0000529Progressive visual loss1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM159528486611124
HP:0000572HP:0000529Progressive visual loss1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0000572HP:0200068Nonprogressive visual loss1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0000572HP:0000529Progressive visual loss1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0000572HP:0200068Nonprogressive visual loss1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0000572HP:0000529Progressive visual loss1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0000572HP:0200068Nonprogressive visual loss1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0000572HP:0000529Progressive visual loss1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0000572HP:0200068Nonprogressive visual loss1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0000572HP:0000529Progressive visual loss1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0000572HP:0200068Nonprogressive visual loss1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0000572HP:0000529Progressive visual loss1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0000572HP:0200068Nonprogressive visual loss1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0000572HP:0000529Progressive visual loss1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0000572HP:0200068Nonprogressive visual loss1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0000572HP:0000529Progressive visual loss1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0000572HP:0200068Nonprogressive visual loss1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0000572HP:0000529Progressive visual loss1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0000572HP:0200068Nonprogressive visual loss1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0000572HP:0000529Progressive visual loss1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000572HP:0200068Nonprogressive visual loss1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000572HP:0000529Progressive visual loss1MYO7A CL E G H4647231169ORPHA122237606276903
HP:0000572HP:0000529Progressive visual loss1MYO7A CL E G H4647231178ORPHA122237606276903
HP:0000572HP:0200068Nonprogressive visual loss1MYO7A CL E G H4647231169ORPHA125167606276903
HP:0000572HP:0200068Nonprogressive visual loss1MYO7A CL E G H4647231178ORPHA125167606276903
HP:0000572HP:0200068Nonprogressive visual loss1MYO7A CL E G H4647231169ORPHA122237606276903
HP:0000572HP:0200068Nonprogressive visual loss1MYO7A CL E G H4647231178ORPHA122237606276903
HP:0000572HP:0000529Progressive visual loss1MYO7A CL E G H4647231169ORPHA125167606276903
HP:0000572HP:0000529Progressive visual loss1MYO7A CL E G H4647231178ORPHA125167606276903
HP:0000572HP:0000529Progressive visual loss1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM122237606276903
HP:0000572HP:0200068Nonprogressive visual loss1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM125167606276903
HP:0000572HP:0200068Nonprogressive visual loss1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM122237606276903
HP:0000572HP:0000529Progressive visual loss1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM125167606276903
HP:0000572HP:0000529Progressive visual loss1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM124721576608072
HP:0000572HP:0200068Nonprogressive visual loss1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM128921576608072
HP:0000572HP:0200068Nonprogressive visual loss1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM124721576608072
HP:0000572HP:0000529Progressive visual loss1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM128921576608072
HP:0000572HP:0000529Progressive visual loss1NHS CL E G H4810627ORPHA14057820300457
HP:0000572HP:0200068Nonprogressive visual loss1NHS CL E G H4810627ORPHA14217820300457
HP:0000572HP:0200068Nonprogressive visual loss1NHS CL E G H4810627ORPHA14057820300457
HP:0000572HP:0000529Progressive visual loss1NHS CL E G H4810627ORPHA14217820300457
HP:0000572HP:0000529Progressive visual loss1NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM14057820300457
HP:0000572HP:0200068Nonprogressive visual loss1NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM14217820300457
HP:0000572HP:0200068Nonprogressive visual loss1NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM14057820300457
HP:0000572HP:0000529Progressive visual loss1NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM14217820300457
HP:0000572HP:0000529Progressive visual loss1PAX6 CL E G H5080250923ORPHA15778620607108
HP:0000572HP:0200068Nonprogressive visual loss1PAX6 CL E G H5080250923ORPHA16328620607108
HP:0000572HP:0200068Nonprogressive visual loss1PAX6 CL E G H5080250923ORPHA15778620607108
HP:0000572HP:0000529Progressive visual loss1PAX6 CL E G H5080250923ORPHA16328620607108
HP:0000572HP:0000529Progressive visual loss1PCDH15 CL E G H65217231169ORPHA1170914674605514
HP:0000572HP:0200068Nonprogressive visual loss1PCDH15 CL E G H65217231169ORPHA1198514674605514
HP:0000572HP:0200068Nonprogressive visual loss1PCDH15 CL E G H65217231169ORPHA1170914674605514
HP:0000572HP:0000529Progressive visual loss1PCDH15 CL E G H65217231169ORPHA1198514674605514
HP:0000572HP:0000529Progressive visual loss1PCYT1A CL E G H513085167ORPHA12098754123695
HP:0000572HP:0200068Nonprogressive visual loss1PCYT1A CL E G H513085167ORPHA12618754123695
HP:0000572HP:0200068Nonprogressive visual loss1PCYT1A CL E G H513085167ORPHA12098754123695
HP:0000572HP:0000529Progressive visual loss1PCYT1A CL E G H513085167ORPHA12618754123695
HP:0000572HP:0000529Progressive visual loss1PDZD7 CL E G H79955231178ORPHA143326257612971
HP:0000572HP:0200068Nonprogressive visual loss1PDZD7 CL E G H79955231178ORPHA160726257612971
HP:0000572HP:0200068Nonprogressive visual loss1PDZD7 CL E G H79955231178ORPHA143326257612971
HP:0000572HP:0000529Progressive visual loss1PDZD7 CL E G H79955231178ORPHA160726257612971
HP:0000572HP:0000529Progressive visual loss1PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM12348855601789
HP:0000572HP:0200068Nonprogressive visual loss1PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM13428855601789
HP:0000572HP:0200068Nonprogressive visual loss1PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM12348855601789
HP:0000572HP:0000529Progressive visual loss1PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM13428855601789
HP:0000572HP:0000529Progressive visual loss1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM14319039603604
HP:0000572HP:0200068Nonprogressive visual loss1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15139039603604
HP:0000572HP:0200068Nonprogressive visual loss1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM14319039603604
HP:0000572HP:0000529Progressive visual loss1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15139039603604
HP:0000572HP:0000529Progressive visual loss1POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM12169173312040
HP:0000572HP:0200068Nonprogressive visual loss1POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM13219173312040
HP:0000572HP:0200068Nonprogressive visual loss1POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM12169173312040
HP:0000572HP:0000529Progressive visual loss1POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM13219173312040
HP:0000572HP:0000529Progressive visual loss1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM114709179174763
HP:0000572HP:0200068Nonprogressive visual loss1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM117129179174763
HP:0000572HP:0200068Nonprogressive visual loss1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM114709179174763
HP:0000572HP:0000529Progressive visual loss1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM117129179174763
HP:0000572HP:0000529Progressive visual loss1PRDM5 CL E G H1110790354ORPHA11979349614161
HP:0000572HP:0200068Nonprogressive visual loss1PRDM5 CL E G H1110790354ORPHA12169349614161
HP:0000572HP:0200068Nonprogressive visual loss1PRDM5 CL E G H1110790354ORPHA11979349614161
HP:0000572HP:0000529Progressive visual loss1PRDM5 CL E G H1110790354ORPHA12169349614161
HP:0000572HP:0000529Progressive visual loss1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13039462311850
HP:0000572HP:0200068Nonprogressive visual loss1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13219462311850
HP:0000572HP:0200068Nonprogressive visual loss1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13039462311850
HP:0000572HP:0000529Progressive visual loss1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13219462311850
HP:0000572HP:0000529Progressive visual loss1SF3B1 CL E G H2345139044ORPHA16810768605590
HP:0000572HP:0200068Nonprogressive visual loss1SF3B1 CL E G H2345139044ORPHA16810768605590
HP:0000572HP:0000529Progressive visual loss1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM115510938603941
HP:0000572HP:0200068Nonprogressive visual loss1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM116810938603941
HP:0000572HP:0200068Nonprogressive visual loss1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM115510938603941
HP:0000572HP:0000529Progressive visual loss1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM116810938603941
HP:0000572HP:0000529Progressive visual loss1SMCHD1 CL E G H233472250Familial band heterotopiaORPHA172429090614982
HP:0000572HP:0200068Nonprogressive visual loss1SMCHD1 CL E G H233472250Familial band heterotopiaORPHA185929090614982
HP:0000572HP:0200068Nonprogressive visual loss1SMCHD1 CL E G H233472250Familial band heterotopiaORPHA172429090614982
HP:0000572HP:0000529Progressive visual loss1SMCHD1 CL E G H233472250Familial band heterotopiaORPHA185929090614982
HP:0000572HP:0000529Progressive visual loss1SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM17113771605740
HP:0000572HP:0200068Nonprogressive visual loss1SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM18013771605740
HP:0000572HP:0200068Nonprogressive visual loss1SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM17113771605740
HP:0000572HP:0000529Progressive visual loss1SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM18013771605740
HP:0000572HP:0000529Progressive visual loss1SOX2 CL E G H665777298ORPHA115511195184429
HP:0000572HP:0200068Nonprogressive visual loss1SOX2 CL E G H665777298ORPHA116011195184429
HP:0000572HP:0200068Nonprogressive visual loss1SOX2 CL E G H665777298ORPHA115511195184429
HP:0000572HP:0000529Progressive visual loss1SOX2 CL E G H665777298ORPHA116011195184429
HP:0000572HP:0000529Progressive visual loss1SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM117325812611715
HP:0000572HP:0200068Nonprogressive visual loss1SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM118925812611715
HP:0000572HP:0200068Nonprogressive visual loss1SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM117325812611715
HP:0000572HP:0000529Progressive visual loss1SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM118925812611715
HP:0000572HP:0000529Progressive visual loss1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM124310872604402
HP:0000572HP:0200068Nonprogressive visual loss1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM128310872604402
HP:0000572HP:0200068Nonprogressive visual loss1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM124310872604402
HP:0000572HP:0000529Progressive visual loss1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM128310872604402
HP:0000572HP:0000529Progressive visual loss1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM166629203613577
HP:0000572HP:0200068Nonprogressive visual loss1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM173829203613577
HP:0000572HP:0200068Nonprogressive visual loss1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM166629203613577
HP:0000572HP:0000529Progressive visual loss1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM173829203613577
HP:0000572HP:0000529Progressive visual loss1TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM138711654606847
HP:0000572HP:0200068Nonprogressive visual loss1TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM143811654606847
HP:0000572HP:0200068Nonprogressive visual loss1TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM138711654606847
HP:0000572HP:0000529Progressive visual loss1TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM143811654606847
HP:0000572HP:0000529Progressive visual loss1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM123711758602498
HP:0000572HP:0200068Nonprogressive visual loss1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM126311758602498
HP:0000572HP:0200068Nonprogressive visual loss1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM123711758602498
HP:0000572HP:0000529Progressive visual loss1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM126311758602498
HP:0000572HP:0000529Progressive visual loss1TRIM44 CL E G H54765250923ORPHA12719016612298
HP:0000572HP:0200068Nonprogressive visual loss1TRIM44 CL E G H54765250923ORPHA12919016612298
HP:0000572HP:0200068Nonprogressive visual loss1TRIM44 CL E G H54765250923ORPHA12719016612298
HP:0000572HP:0000529Progressive visual loss1TRIM44 CL E G H54765250923ORPHA12919016612298
HP:0000572HP:0000529Progressive visual loss1USH1C CL E G H10083231169ORPHA173312597605242
HP:0000572HP:0200068Nonprogressive visual loss1USH1C CL E G H10083231169ORPHA181212597605242
HP:0000572HP:0200068Nonprogressive visual loss1USH1C CL E G H10083231169ORPHA173312597605242
HP:0000572HP:0000529Progressive visual loss1USH1C CL E G H10083231169ORPHA181212597605242
HP:0000572HP:0000529Progressive visual loss1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM173312597605242
HP:0000572HP:0200068Nonprogressive visual loss1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM181212597605242
HP:0000572HP:0200068Nonprogressive visual loss1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM173312597605242
HP:0000572HP:0000529Progressive visual loss1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM181212597605242
HP:0000572HP:0000529Progressive visual loss1USH1G CL E G H124590231169ORPHA124716356607696
HP:0000572HP:0200068Nonprogressive visual loss1USH1G CL E G H124590231169ORPHA130316356607696
HP:0000572HP:0200068Nonprogressive visual loss1USH1G CL E G H124590231169ORPHA124716356607696
HP:0000572HP:0000529Progressive visual loss1USH1G CL E G H124590231169ORPHA130316356607696
HP:0000572HP:0000529Progressive visual loss1USH2A CL E G H7399231178ORPHA1406112601608400
HP:0000572HP:0200068Nonprogressive visual loss1USH2A CL E G H7399231178ORPHA1482812601608400
HP:0000572HP:0200068Nonprogressive visual loss1USH2A CL E G H7399231178ORPHA1406112601608400
HP:0000572HP:0000529Progressive visual loss1USH2A CL E G H7399231178ORPHA1482812601608400
HP:0000572HP:0000529Progressive visual loss1VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM17832464118661
HP:0000572HP:0200068Nonprogressive visual loss1VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM111112464118661
HP:0000572HP:0200068Nonprogressive visual loss1VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM17832464118661
HP:0000572HP:0000529Progressive visual loss1VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM111112464118661
HP:0000572HP:0000529Progressive visual loss1WHRN CL E G H25861231178ORPHA150016361607928
HP:0000572HP:0200068Nonprogressive visual loss1WHRN CL E G H25861231178ORPHA162516361607928
HP:0000572HP:0200068Nonprogressive visual loss1WHRN CL E G H25861231178ORPHA150016361607928
HP:0000572HP:0000529Progressive visual loss1WHRN CL E G H25861231178ORPHA162516361607928
HP:0000572HP:0000529Progressive visual loss1XYLT2 CL E G H6413285194ORPHA18315517608125
HP:0000572HP:0200068Nonprogressive visual loss1XYLT2 CL E G H6413285194ORPHA113015517608125
HP:0000572HP:0200068Nonprogressive visual loss1XYLT2 CL E G H6413285194ORPHA18315517608125
HP:0000572HP:0000529Progressive visual loss1XYLT2 CL E G H6413285194ORPHA113015517608125
HP:0000572HP:0000529Progressive visual loss1ZNF469 CL E G H8462790354ORPHA191623216612078
HP:0000572HP:0200068Nonprogressive visual loss1ZNF469 CL E G H8462790354ORPHA1119023216612078
HP:0000572HP:0200068Nonprogressive visual loss1ZNF469 CL E G H8462790354ORPHA191623216612078
HP:0000572HP:0000529Progressive visual loss1ZNF469 CL E G H8462790354ORPHA1119023216612078
HP:0000572HP:0000529Progressive visual loss1ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM191623216612078
HP:0000572HP:0200068Nonprogressive visual loss1ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM1119023216612078
HP:0000572HP:0200068Nonprogressive visual loss1ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM191623216612078
HP:0000572HP:0000529Progressive visual loss1ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM1119023216612078
HP:0000572HP:0000529Progressive visual loss1ZNHIT3 CL E G H93262836ORPHA110812309604500
HP:0000572HP:0200068Nonprogressive visual loss1ZNHIT3 CL E G H93262836ORPHA110912309604500
HP:0000572HP:0200068Nonprogressive visual loss1ZNHIT3 CL E G H93262836ORPHA110812309604500
HP:0000572HP:0000529Progressive visual loss1ZNHIT3 CL E G H93262836ORPHA110912309604500
HP:0000572HP:0007924Slow decrease in visual acuity2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1253434601691
HP:0000572HP:0007924Slow decrease in visual acuity2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM1212834601691
HP:0000572HP:0007924Slow decrease in visual acuity2ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1106561300371
HP:0000572HP:0007924Slow decrease in visual acuity2ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM196661300371
HP:0000572HP:0007924Slow decrease in visual acuity2ADGRV1 CL E G H84059231178ORPHA1316817416602851
HP:0000572HP:0007924Slow decrease in visual acuity2ADGRV1 CL E G H84059231178ORPHA1245917416602851
HP:0000572HP:0007924Slow decrease in visual acuity2ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13342428606844
HP:0000572HP:0007924Slow decrease in visual acuity2ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM12504428606844
HP:0000572HP:0007924Slow decrease in visual acuity2ARSG CL E G H22901231183ORPHA125024102610008
HP:0000572HP:0007924Slow decrease in visual acuity2ARSG CL E G H22901231183ORPHA117424102610008
HP:0000572HP:0007924Slow decrease in visual acuity2ASPA CL E G H443314911ORPHA1281756608034
HP:0000572HP:0007924Slow decrease in visual acuity2ASPA CL E G H443314911ORPHA1245756608034
HP:0000572HP:0007924Slow decrease in visual acuity2ATXN7 CL E G H631494147ORPHA13910560607640
HP:0000572HP:0007924Slow decrease in visual acuity2ATXN7 CL E G H631494147ORPHA13710560607640
HP:0000572HP:0007924Slow decrease in visual acuity2BAP1 CL E G H831439044ORPHA11683950603089
HP:0000572HP:0007924Slow decrease in visual acuity2BAP1 CL E G H831439044ORPHA11514950603089
HP:0000572HP:0007924Slow decrease in visual acuity2BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM153620893300485
HP:0000572HP:0007924Slow decrease in visual acuity2BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM150220893300485
HP:0000572HP:0007924Slow decrease in visual acuity2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM14091122609019
HP:0000572HP:0007924Slow decrease in visual acuity2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM13661122609019
HP:0000572HP:0007924Slow decrease in visual acuity2C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM152114344608752
HP:0000572HP:0007924Slow decrease in visual acuity2C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM141314344608752
HP:0000572HP:0007924Slow decrease in visual acuity2CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11191373611492
HP:0000572HP:0007924Slow decrease in visual acuity2CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM11041373611492
HP:0000572HP:0007924Slow decrease in visual acuity2CDH23 CL E G H64072231169ORPHA1307513733605516
HP:0000572HP:0007924Slow decrease in visual acuity2CDH23 CL E G H64072231169ORPHA1261213733605516
HP:0000572HP:0007924Slow decrease in visual acuity2CEP78 CL E G H84131231183ORPHA138925740617110
HP:0000572HP:0007924Slow decrease in visual acuity2CEP78 CL E G H84131231183ORPHA128525740617110
HP:0000572HP:0007924Slow decrease in visual acuity2CIB2 CL E G H10518231169ORPHA116324579605564
HP:0000572HP:0007924Slow decrease in visual acuity2CIB2 CL E G H10518231169ORPHA113724579605564
HP:0000572HP:0007924Slow decrease in visual acuity2CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM15492025602727
HP:0000572HP:0007924Slow decrease in visual acuity2CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM13882025602727
HP:0000572HP:0007924Slow decrease in visual acuity2CLRN1 CL E G H7401231183ORPHA127212605606397
HP:0000572HP:0007924Slow decrease in visual acuity2CLRN1 CL E G H7401231183ORPHA124212605606397
HP:0000572HP:0007924Slow decrease in visual acuity2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM114972195120328
HP:0000572HP:0007924Slow decrease in visual acuity2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM17612195120328
HP:0000572HP:0007924Slow decrease in visual acuity2COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM110102202120130
HP:0000572HP:0007924Slow decrease in visual acuity2COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM18372202120130
HP:0000572HP:0007924Slow decrease in visual acuity2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0000572HP:0007924Slow decrease in visual acuity2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0000572HP:0007924Slow decrease in visual acuity2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14652529116840
HP:0000572HP:0007924Slow decrease in visual acuity2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14132529116840
HP:0000572HP:0007924Slow decrease in visual acuity2CYSLTR2 CL E G H5710539044ORPHA16718274605666
HP:0000572HP:0007924Slow decrease in visual acuity2CYSLTR2 CL E G H5710539044ORPHA16518274605666
HP:0000572HP:0007924Slow decrease in visual acuity2ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM14117233606421
HP:0000572HP:0007924Slow decrease in visual acuity2ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM14017233606421
HP:0000572HP:0007924Slow decrease in visual acuity2EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM13363413607566
HP:0000572HP:0007924Slow decrease in visual acuity2EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM12873413607566
HP:0000572HP:0007924Slow decrease in visual acuity2FLVCR1 CL E G H2898288628ORPHA139124682609144
HP:0000572HP:0007924Slow decrease in visual acuity2FLVCR1 CL E G H2898288628ORPHA132624682609144
HP:0000572HP:0007924Slow decrease in visual acuity2FOXC1 CL E G H2296250923ORPHA13283800601090
HP:0000572HP:0007924Slow decrease in visual acuity2FOXC1 CL E G H2296250923ORPHA12533800601090
HP:0000572HP:0007924Slow decrease in visual acuity2GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA19884171137295
HP:0000572HP:0007924Slow decrease in visual acuity2GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA18494171137295
HP:0000572HP:0007924Slow decrease in visual acuity2GNA11 CL E G H276739044ORPHA11504379139313
HP:0000572HP:0007924Slow decrease in visual acuity2GNA11 CL E G H276739044ORPHA11294379139313
HP:0000572HP:0007924Slow decrease in visual acuity2GNAQ CL E G H277639044ORPHA1754390600998
HP:0000572HP:0007924Slow decrease in visual acuity2GNAQ CL E G H277639044ORPHA1744390600998
HP:0000572HP:0007924Slow decrease in visual acuity2HADHA CL E G H30305ORPHA15274801600890
HP:0000572HP:0007924Slow decrease in visual acuity2HADHA CL E G H30305ORPHA14774801600890
HP:0000572HP:0007924Slow decrease in visual acuity2HARS CL E G H3035231183ORPHA14816142810
HP:0000572HP:0007924Slow decrease in visual acuity2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA1194931142800
HP:0000572HP:0007924Slow decrease in visual acuity2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12134800300256
HP:0000572HP:0007924Slow decrease in visual acuity2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12024800300256
HP:0000572HP:0007924Slow decrease in visual acuity2HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0000572HP:0007924Slow decrease in visual acuity2HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0000572HP:0007924Slow decrease in visual acuity2IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM1109829077614620
HP:0000572HP:0007924Slow decrease in visual acuity2IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM185129077614620
HP:0000572HP:0007924Slow decrease in visual acuity2KIF1A CL E G H5472836ORPHA11735888601255
HP:0000572HP:0007924Slow decrease in visual acuity2KIF1A CL E G H5472836ORPHA11441888601255
HP:0000572HP:0007924Slow decrease in visual acuity2LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM18356494604349
HP:0000572HP:0007924Slow decrease in visual acuity2LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM14326494604349
HP:0000572HP:0007924Slow decrease in visual acuity2LSS CL E G H4047616509Cataract 44616509C4225300OMIM12466708600909
HP:0000572HP:0007924Slow decrease in visual acuity2LSS CL E G H4047616509Cataract 44616509C4225300OMIM12326708600909
HP:0000572HP:0007924Slow decrease in visual acuity2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM159528486611124
HP:0000572HP:0007924Slow decrease in visual acuity2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM151828486611124
HP:0000572HP:0007924Slow decrease in visual acuity2MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0000572HP:0007924Slow decrease in visual acuity2MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0000572HP:0007924Slow decrease in visual acuity2MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0000572HP:0007924Slow decrease in visual acuity2MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0000572HP:0007924Slow decrease in visual acuity2MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0000572HP:0007924Slow decrease in visual acuity2MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0000572HP:0007924Slow decrease in visual acuity2MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0000572HP:0007924Slow decrease in visual acuity2MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0000572HP:0007924Slow decrease in visual acuity2MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0000572HP:0007924Slow decrease in visual acuity2MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000572HP:0007924Slow decrease in visual acuity2MYO7A CL E G H4647231169ORPHA125167606276903
HP:0000572HP:0007924Slow decrease in visual acuity2MYO7A CL E G H4647231178ORPHA125167606276903
HP:0000572HP:0007924Slow decrease in visual acuity2MYO7A CL E G H4647231169ORPHA122237606276903
HP:0000572HP:0007924Slow decrease in visual acuity2MYO7A CL E G H4647231178ORPHA122237606276903
HP:0000572HP:0007924Slow decrease in visual acuity2MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM125167606276903
HP:0000572HP:0007924Slow decrease in visual acuity2MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM122237606276903
HP:0000572HP:0007924Slow decrease in visual acuity2NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM128921576608072
HP:0000572HP:0007924Slow decrease in visual acuity2NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM124721576608072
HP:0000572HP:0007924Slow decrease in visual acuity2NHS CL E G H4810627ORPHA14217820300457
HP:0000572HP:0007924Slow decrease in visual acuity2NHS CL E G H4810627ORPHA14057820300457
HP:0000572HP:0007924Slow decrease in visual acuity2NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM14217820300457
HP:0000572HP:0007924Slow decrease in visual acuity2NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM14057820300457
HP:0000572HP:0007924Slow decrease in visual acuity2PAX6 CL E G H5080250923ORPHA16328620607108
HP:0000572HP:0007924Slow decrease in visual acuity2PAX6 CL E G H5080250923ORPHA15778620607108
HP:0000572HP:0007924Slow decrease in visual acuity2PCDH15 CL E G H65217231169ORPHA1198514674605514
HP:0000572HP:0007924Slow decrease in visual acuity2PCDH15 CL E G H65217231169ORPHA1170914674605514
HP:0000572HP:0007924Slow decrease in visual acuity2PCYT1A CL E G H513085167ORPHA12618754123695
HP:0000572HP:0007924Slow decrease in visual acuity2PCYT1A CL E G H513085167ORPHA12098754123695
HP:0000572HP:0007924Slow decrease in visual acuity2PDZD7 CL E G H79955231178ORPHA160726257612971
HP:0000572HP:0007924Slow decrease in visual acuity2PDZD7 CL E G H79955231178ORPHA143326257612971
HP:0000572HP:0007924Slow decrease in visual acuity2PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM13428855601789
HP:0000572HP:0007924Slow decrease in visual acuity2PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM12348855601789
HP:0000572HP:0007924Slow decrease in visual acuity2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15139039603604
HP:0000572HP:0007924Slow decrease in visual acuity2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM14319039603604
HP:0000572HP:0007924Slow decrease in visual acuity2POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM13219173312040
HP:0000572HP:0007924Slow decrease in visual acuity2POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM12169173312040
HP:0000572HP:0007924Slow decrease in visual acuity2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM117129179174763
HP:0000572HP:0007924Slow decrease in visual acuity2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM114709179174763
HP:0000572HP:0007924Slow decrease in visual acuity2PRDM5 CL E G H1110790354ORPHA12169349614161
HP:0000572HP:0007924Slow decrease in visual acuity2PRDM5 CL E G H1110790354ORPHA11979349614161
HP:0000572HP:0007924Slow decrease in visual acuity2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13219462311850
HP:0000572HP:0007924Slow decrease in visual acuity2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM13039462311850
HP:0000572HP:0007924Slow decrease in visual acuity2SF3B1 CL E G H2345139044ORPHA16810768605590
HP:0000572HP:0007924Slow decrease in visual acuity2SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM116810938603941
HP:0000572HP:0007924Slow decrease in visual acuity2SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM115510938603941
HP:0000572HP:0007924Slow decrease in visual acuity2SMCHD1 CL E G H233472250Familial band heterotopiaORPHA185929090614982
HP:0000572HP:0007924Slow decrease in visual acuity2SMCHD1 CL E G H233472250Familial band heterotopiaORPHA172429090614982
HP:0000572HP:0007924Slow decrease in visual acuity2SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM18013771605740
HP:0000572HP:0007924Slow decrease in visual acuity2SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM17113771605740
HP:0000572HP:0007924Slow decrease in visual acuity2SOX2 CL E G H665777298ORPHA116011195184429
HP:0000572HP:0007924Slow decrease in visual acuity2SOX2 CL E G H665777298ORPHA115511195184429
HP:0000572HP:0007924Slow decrease in visual acuity2SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM118925812611715
HP:0000572HP:0007924Slow decrease in visual acuity2SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM117325812611715
HP:0000572HP:0007924Slow decrease in visual acuity2ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM128310872604402
HP:0000572HP:0007924Slow decrease in visual acuity2ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM124310872604402
HP:0000572HP:0007924Slow decrease in visual acuity2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM173829203613577
HP:0000572HP:0007924Slow decrease in visual acuity2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM166629203613577
HP:0000572HP:0007924Slow decrease in visual acuity2TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM143811654606847
HP:0000572HP:0007924Slow decrease in visual acuity2TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM138711654606847
HP:0000572HP:0007924Slow decrease in visual acuity2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM126311758602498
HP:0000572HP:0007924Slow decrease in visual acuity2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM123711758602498
HP:0000572HP:0007924Slow decrease in visual acuity2TRIM44 CL E G H54765250923ORPHA12919016612298
HP:0000572HP:0007924Slow decrease in visual acuity2TRIM44 CL E G H54765250923ORPHA12719016612298
HP:0000572HP:0007924Slow decrease in visual acuity2USH1C CL E G H10083231169ORPHA181212597605242
HP:0000572HP:0007924Slow decrease in visual acuity2USH1C CL E G H10083231169ORPHA173312597605242
HP:0000572HP:0007924Slow decrease in visual acuity2USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM181212597605242
HP:0000572HP:0007924Slow decrease in visual acuity2USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM173312597605242
HP:0000572HP:0007924Slow decrease in visual acuity2USH1G CL E G H124590231169ORPHA130316356607696
HP:0000572HP:0007924Slow decrease in visual acuity2USH1G CL E G H124590231169ORPHA124716356607696
HP:0000572HP:0007924Slow decrease in visual acuity2USH2A CL E G H7399231178ORPHA1482812601608400
HP:0000572HP:0007924Slow decrease in visual acuity2USH2A CL E G H7399231178ORPHA1406112601608400
HP:0000572HP:0007924Slow decrease in visual acuity2VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM111112464118661
HP:0000572HP:0007924Slow decrease in visual acuity2VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM17832464118661
HP:0000572HP:0007924Slow decrease in visual acuity2WHRN CL E G H25861231178ORPHA162516361607928
HP:0000572HP:0007924Slow decrease in visual acuity2WHRN CL E G H25861231178ORPHA150016361607928
HP:0000572HP:0007924Slow decrease in visual acuity2XYLT2 CL E G H6413285194ORPHA113015517608125
HP:0000572HP:0007924Slow decrease in visual acuity2XYLT2 CL E G H6413285194ORPHA18315517608125
HP:0000572HP:0007924Slow decrease in visual acuity2ZNF469 CL E G H8462790354ORPHA1119023216612078
HP:0000572HP:0007924Slow decrease in visual acuity2ZNF469 CL E G H8462790354ORPHA191623216612078
HP:0000572HP:0007924Slow decrease in visual acuity2ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM1119023216612078
HP:0000572HP:0007924Slow decrease in visual acuity2ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM191623216612078
HP:0000572HP:0007924Slow decrease in visual acuity2ZNHIT3 CL E G H93262836ORPHA110912309604500
HP:0000572HP:0007924Slow decrease in visual acuity2ZNHIT3 CL E G H93262836ORPHA110812309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000572HP:0000572Visual loss0ADAMTS10 CL E G H817943449Mehes syndromeORPHA024113201608990
HP:0000572HP:0000572Visual loss0ADAMTS10 CL E G H817943449Mehes syndromeORPHA036313201608990
HP:0000572HP:0000572Visual loss0AHI1 CL E G H54806220493ORPHA065021575608894
HP:0000572HP:0000572Visual loss0AHI1 CL E G H54806220493ORPHA082721575608894
HP:0000572HP:0000572Visual loss0CDH23 CL E G H6407296253ORPHA0261213733605516
HP:0000572HP:0000572Visual loss0CDH23 CL E G H6407296253ORPHA0307513733605516
HP:0000572HP:0000572Visual loss0CEP120 CL E G H153241220493ORPHA021026690613446
HP:0000572HP:0000572Visual loss0CEP120 CL E G H153241220493ORPHA025026690613446
HP:0000572HP:0000572Visual loss0CEP41 CL E G H95681220493ORPHA029712370610523
HP:0000572HP:0000572Visual loss0CEP41 CL E G H95681220493ORPHA034712370610523
HP:0000572HP:0000572Visual loss0COL2A1 CL E G H128090653ORPHA012132200120140
HP:0000572HP:0000572Visual loss0COL2A1 CL E G H128090653ORPHA015402200120140
HP:0000572HP:0000572Visual loss0COL7A1 CL E G H129489842ORPHA016582214120120
HP:0000572HP:0000572Visual loss0COL7A1 CL E G H129489842ORPHA020282214120120
HP:0000572HP:0000572Visual loss0COX7B CL E G H13492556ORPHA01712291300885
HP:0000572HP:0000572Visual loss0COX7B CL E G H13492556ORPHA01752291300885
HP:0000572HP:0000572Visual loss0CSPP1 CL E G H79848397715ORPHA047626193611654
HP:0000572HP:0000572Visual loss0CSPP1 CL E G H79848397715ORPHA068726193611654
HP:0000572HP:0000572Visual loss0CYP1B1 CL E G H154598976ORPHA02432597601771
HP:0000572HP:0000572Visual loss0CYP1B1 CL E G H154598976ORPHA02562597601771
HP:0000572HP:0000572Visual loss0FBN1 CL E G H22003449Mehes syndromeORPHA049683603134797
HP:0000572HP:0000572Visual loss0FBN1 CL E G H22003449Mehes syndromeORPHA054573603134797
HP:0000572HP:0000572Visual loss0FGFR2 CL E G H226393259ORPHA04663689176943
HP:0000572HP:0000572Visual loss0FGFR2 CL E G H226393259ORPHA05013689176943
HP:0000572HP:0000572Visual loss0HCCS CL E G H30522556ORPHA02144837300056
HP:0000572HP:0000572Visual loss0HCCS CL E G H30522556ORPHA02204837300056
HP:0000572HP:0000572Visual loss0INPP5E CL E G H56623220493ORPHA046621474613037
HP:0000572HP:0000572Visual loss0INPP5E CL E G H56623220493ORPHA055921474613037
HP:0000572HP:0000572Visual loss0KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM030521957611725
HP:0000572HP:0000572Visual loss0KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM034821957611725
HP:0000572HP:0000572Visual loss0KIAA0586 CL E G H9786397715ORPHA033819960610178
HP:0000572HP:0000572Visual loss0KIAA0586 CL E G H9786397715ORPHA066219960610178
HP:0000572HP:0000572Visual loss0KIF11 CL E G H38322526ORPHA04056388148760
HP:0000572HP:0000572Visual loss0KIF11 CL E G H38322526ORPHA04986388148760
HP:0000572HP:0000572Visual loss0LMNB1 CL E G H400199027ORPHA01296637150340
HP:0000572HP:0000572Visual loss0LMNB1 CL E G H400199027ORPHA01516637150340
HP:0000572HP:0000572Visual loss0LTBP2 CL E G H405398976ORPHA04026715602091
HP:0000572HP:0000572Visual loss0LTBP2 CL E G H405398976ORPHA06196715602091
HP:0000572HP:0000572Visual loss0LTBP2 CL E G H40533449Mehes syndromeORPHA04026715602091
HP:0000572HP:0000572Visual loss0LTBP2 CL E G H40533449Mehes syndromeORPHA06196715602091
HP:0000572HP:0000572Visual loss0MKS1 CL E G H54903220493ORPHA04777121609883
HP:0000572HP:0000572Visual loss0MKS1 CL E G H54903220493ORPHA05537121609883
HP:0000572HP:0000572Visual loss0MYOC CL E G H465398976ORPHA01317610601652
HP:0000572HP:0000572Visual loss0MYOC CL E G H465398976ORPHA01607610601652
HP:0000572HP:0000572Visual loss0NDUFB11 CL E G H545392556ORPHA017720372300403
HP:0000572HP:0000572Visual loss0NDUFB11 CL E G H545392556ORPHA018320372300403
HP:0000572HP:0000572Visual loss0NOD2 CL E G H6412790340ORPHA05615331605956
HP:0000572HP:0000572Visual loss0NOD2 CL E G H6412790340ORPHA06535331605956
HP:0000572HP:0000572Visual loss0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM08607883600276
HP:0000572HP:0000572Visual loss0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM09467883600276
HP:0000572HP:0000572Visual loss0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM02288896311800
HP:0000572HP:0000572Visual loss0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM02458896311800
HP:0000572HP:0000572Visual loss0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM0459119603131
HP:0000572HP:0000572Visual loss0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM0539119603131
HP:0000572HP:0000572Visual loss0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA0319652600716
HP:0000572HP:0000572Visual loss0SLC19A2 CL E G H1056049827ORPHA015510938603941
HP:0000572HP:0000572Visual loss0SLC19A2 CL E G H1056049827ORPHA016810938603941
HP:0000572HP:0000572Visual loss0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM032830224607882
HP:0000572HP:0000572Visual loss0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM039130224607882
HP:0000572HP:0000572Visual loss0SPATA7 CL E G H55812604232Leber congenital amaurosis 3604232C1858677OMIM023120423609868
HP:0000572HP:0000572Visual loss0SPATA7 CL E G H55812604232Leber congenital amaurosis 3604232C1858677OMIM029620423609868
HP:0000572HP:0000572Visual loss0TAT CL E G H689828378ORPHA021711573613018
HP:0000572HP:0000572Visual loss0TAT CL E G H689828378ORPHA023511573613018
HP:0000572HP:0000572Visual loss0TEK CL E G H701098976ORPHA029811724600221
HP:0000572HP:0000572Visual loss0TEK CL E G H701098976ORPHA031811724600221
HP:0000572HP:0000572Visual loss0TUBB3 CL E G H10381300570ORPHA020520772602661
HP:0000572HP:0000572Visual loss0TUBB3 CL E G H10381300570ORPHA021720772602661
HP:0000572HP:0000572Visual loss0USP8 CL E G H910196253ORPHA09812631603158
HP:0000572HP:0000572Visual loss0USP8 CL E G H910196253ORPHA011512631603158
HP:0000572HP:0000572Visual loss0VHL CL E G H7428892Billet Bear syndromeORPHA0135712687608537
HP:0000572HP:0000572Visual loss0VHL CL E G H7428892Billet Bear syndromeORPHA0152412687608537
HP:0000572HP:0000529Progressive visual loss1ADAMTS10 CL E G H817943449Mehes syndromeORPHA024113201608990
HP:0000572