Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of vision (HP:0000504)help
..Starting node
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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 timepoint 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 3604116C1858806OMIM11280211234601691
HP:0000572HP:0000572Visual loss0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM166994261300371
HP:0000572HP:0000572Visual loss0ADGRV1 CL E G H84059231178ORPHA1249240517416602851
HP:0000572HP:0000572Visual loss0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13162446428606844
HP:0000572HP:0000572Visual loss0ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000572HP:0000572Visual loss0ASPA CL E G H443314911ORPHA1102244756608034
HP:0000572HP:0000572Visual loss0ATXN7 CL E G H631494147ORPHA163610560607640
HP:0000572HP:0000572Visual loss0BAP1 CL E G H831439044ORPHA11191483950603089
HP:0000572HP:0000572Visual loss0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15548220893300485
HP:0000572HP:0000572Visual loss0BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12484501122609019
HP:0000572HP:0000572Visual loss0C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM1841214344608752
HP:0000572HP:0000572Visual loss0CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM1311001373611492
HP:0000572HP:0000572Visual loss0CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0000572HP:0000572Visual loss0CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000572HP:0000572Visual loss0CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0000572HP:0000572Visual loss0CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM11003852025602727
HP:0000572HP:0000572Visual loss0CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000572HP:0000572Visual loss0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1367512195120328
HP:0000572HP:0000572Visual loss0COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM11147842202120130
HP:0000572HP:0000572Visual loss0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13313425223609825
HP:0000572HP:0000572Visual loss0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1194102529116840
HP:0000572HP:0000572Visual loss0CYSLTR2 CL E G H5710539044ORPHA126318274605666
HP:0000572HP:0000572Visual loss0ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM154017233606421
HP:0000572HP:0000572Visual loss0EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM1822813413607566
HP:0000572HP:0000572Visual loss0FLVCR1 CL E G H2898288628ORPHA11732424682609144
HP:0000572HP:0000572Visual loss0FOXC1 CL E G H2296250923ORPHA11392473800601090
HP:0000572HP:0000572Visual loss0GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA11518394171137295
HP:0000572HP:0000572Visual loss0GNA11 CL E G H276739044ORPHA1111284379139313
HP:0000572HP:0000572Visual loss0GNAQ CL E G H277639044ORPHA16724390600998
HP:0000572HP:0000572Visual loss0HADHA CL E G H30305ORPHA1714734801600890
HP:0000572HP:0000572Visual loss0HARS CL E G H3035231183ORPHA1134816142810
HP:0000572HP:0000572Visual loss0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0000572HP:0000572Visual loss0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171954800300256
HP:0000572HP:0000572Visual loss0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11015495213601860
HP:0000572HP:0000572Visual loss0IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17283729077614620
HP:0000572HP:0000572Visual loss0KIF1A CL E G H5472836ORPHA1431405888601255
HP:0000572HP:0000572Visual loss0LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM1184066494604349
HP:0000572HP:0000572Visual loss0LSS CL E G H4047616509Cataract 44616509C4225300OMIM192246708600909
HP:0000572HP:0000572Visual loss0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM14951428486611124
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 H4647231178ORPHA152721647606276903
HP:0000572HP:0000572Visual loss0MYO7A CL E G H4647231169ORPHA152721647606276903
HP:0000572HP:0000572Visual loss0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM152721647606276903
HP:0000572HP:0000572Visual loss0NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM17124321576608072
HP:0000572HP:0000572Visual loss0NHS CL E G H4810627ORPHA1523947820300457
HP:0000572HP:0000572Visual loss0NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523947820300457
HP:0000572HP:0000572Visual loss0PAX6 CL E G H5080250923ORPHA15715708620607108
HP:0000572HP:0000572Visual loss0PCDH15 CL E G H65217231169ORPHA1122169214674605514
HP:0000572HP:0000572Visual loss0PCYT1A CL E G H513085167ORPHA1202068754123695
HP:0000572HP:0000572Visual loss0PDZD7 CL E G H79955231178ORPHA11942026257612971
HP:0000572HP:0000572Visual loss0PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM1102328855601789
HP:0000572HP:0000572Visual loss0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM11794139039603604
HP:0000572HP:0000572Visual loss0POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM122129173312040
HP:0000572HP:0000572Visual loss0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130014389179174763
HP:0000572HP:0000572Visual loss0PRDM5 CL E G H1110790354ORPHA1131869349614161
HP:0000572HP:0000572Visual loss0PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322979462311850
HP:0000572HP:0000572Visual loss0SF3B1 CL E G H2345139044ORPHA146710768605590
HP:0000572HP:0000572Visual loss0SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM15115410938603941
HP:0000572HP:0000572Visual loss0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA112569729090614982
HP:0000572HP:0000572Visual loss0SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM1177013771605740
HP:0000572HP:0000572Visual loss0SOX2 CL E G H665777298ORPHA110514811195184429
HP:0000572HP:0000572Visual loss0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11616925812611715
HP:0000572HP:0000572Visual loss0ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM1724110872604402
HP:0000572HP:0000572Visual loss0TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM15665929203613577
HP:0000572HP:0000572Visual loss0TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM133335511654606847
HP:0000572HP:0000572Visual loss0TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM1823311758602498
HP:0000572HP:0000572Visual loss0TRIM44 CL E G H54765250923ORPHA112719016612298
HP:0000572HP:0000572Visual loss0USH1C CL E G H10083231169ORPHA15172612597605242
HP:0000572HP:0000572Visual loss0USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM15172612597605242
HP:0000572HP:0000572Visual loss0USH1G CL E G H124590231169ORPHA13224216356607696
HP:0000572HP:0000572Visual loss0USH2A CL E G H7399231178ORPHA11234402412601608400
HP:0000572HP:0000572Visual loss0VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1247782464118661
HP:0000572HP:0000572Visual loss0WHRN CL E G H25861231178ORPHA13249616361607928
HP:0000572HP:0000572Visual loss0XYLT2 CL E G H6413285194ORPHA1138315517608125
HP:0000572HP:0000572Visual loss0ZNF469 CL E G H8462790354ORPHA16982823216612078
HP:0000572HP:0000572Visual loss0ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM16982823216612078
HP:0000572HP:0000572Visual loss0ZNHIT3 CL E G H93262836ORPHA1110812309604500
HP:0000572HP:0000572Visual loss1ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM11280211234601691
HP:0000572HP:0000572Visual loss1ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM166994261300371
HP:0000572HP:0000572Visual loss1ADGRV1 CL E G H84059231178ORPHA1249240517416602851
HP:0000572HP:0000572Visual loss1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13162446428606844
HP:0000572HP:0000572Visual loss1ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000572HP:0000572Visual loss1ASPA CL E G H443314911ORPHA1102244756608034
HP:0000572HP:0000572Visual loss1ATXN7 CL E G H631494147ORPHA163610560607640
HP:0000572HP:0000572Visual loss1BAP1 CL E G H831439044ORPHA11191483950603089
HP:0000572HP:0000572Visual loss1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15548220893300485
HP:0000572HP:0000572Visual loss1BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12484501122609019
HP:0000572HP:0000572Visual loss1C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM1841214344608752
HP:0000572HP:0000572Visual loss1CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM1311001373611492
HP:0000572HP:0000572Visual loss1CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0000572HP:0000572Visual loss1CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000572HP:0000572Visual loss1CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0000572HP:0000572Visual loss1CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM11003852025602727
HP:0000572HP:0000572Visual loss1CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000572HP:0000572Visual loss1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1367512195120328
HP:0000572HP:0000572Visual loss1COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM11147842202120130
HP:0000572HP:0000572Visual loss1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13313425223609825
HP:0000572HP:0000572Visual loss1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1194102529116840
HP:0000572HP:0000572Visual loss1CYSLTR2 CL E G H5710539044ORPHA126318274605666
HP:0000572HP:0000572Visual loss1ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM154017233606421
HP:0000572HP:0000572Visual loss1EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM1822813413607566
HP:0000572HP:0000572Visual loss1FLVCR1 CL E G H2898288628ORPHA11732424682609144
HP:0000572HP:0000572Visual loss1FOXC1 CL E G H2296250923ORPHA11392473800601090
HP:0000572HP:0000572Visual loss1GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA11518394171137295
HP:0000572HP:0000572Visual loss1GNA11 CL E G H276739044ORPHA1111284379139313
HP:0000572HP:0000572Visual loss1GNAQ CL E G H277639044ORPHA16724390600998
HP:0000572HP:0000572Visual loss1HADHA CL E G H30305ORPHA1714734801600890
HP:0000572HP:0000572Visual loss1HARS CL E G H3035231183ORPHA1134816142810
HP:0000572HP:0000572Visual loss1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0000572HP:0000572Visual loss1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171954800300256
HP:0000572HP:0000572Visual loss1HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11015495213601860
HP:0000572HP:0000572Visual loss1IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17283729077614620
HP:0000572HP:0000572Visual loss1KIF1A CL E G H5472836ORPHA1431405888601255
HP:0000572HP:0000572Visual loss1LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM1184066494604349
HP:0000572HP:0000572Visual loss1LSS CL E G H4047616509Cataract 44616509C4225300OMIM192246708600909
HP:0000572HP:0000572Visual loss1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM14951428486611124
HP:0000572HP:0000572Visual loss1MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0000572HP:0000572Visual loss1MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0000572HP:0000572Visual loss1MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0000572HP:0000572Visual loss1MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0000572HP:0000572Visual loss1MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0000572HP:0000572Visual loss1MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0000572HP:0000572Visual loss1MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0000572HP:0000572Visual loss1MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0000572HP:0000572Visual loss1MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0000572HP:0000572Visual loss1MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000572HP:0000572Visual loss1MYO7A CL E G H4647231178ORPHA152721647606276903
HP:0000572HP:0000572Visual loss1MYO7A CL E G H4647231169ORPHA152721647606276903
HP:0000572HP:0000572Visual loss1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM152721647606276903
HP:0000572HP:0000572Visual loss1NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM17124321576608072
HP:0000572HP:0000572Visual loss1NHS CL E G H4810627ORPHA1523947820300457
HP:0000572HP:0000572Visual loss1NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523947820300457
HP:0000572HP:0000572Visual loss1PAX6 CL E G H5080250923ORPHA15715708620607108
HP:0000572HP:0000572Visual loss1PCDH15 CL E G H65217231169ORPHA1122169214674605514
HP:0000572HP:0000572Visual loss1PCYT1A CL E G H513085167ORPHA1202068754123695
HP:0000572HP:0000572Visual loss1PDZD7 CL E G H79955231178ORPHA11942026257612971
HP:0000572HP:0000572Visual loss1PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM1102328855601789
HP:0000572HP:0000572Visual loss1PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM11794139039603604
HP:0000572HP:0000572Visual loss1POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM122129173312040
HP:0000572HP:0000572Visual loss1POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130014389179174763
HP:0000572HP:0000572Visual loss1PRDM5 CL E G H1110790354ORPHA1131869349614161
HP:0000572HP:0000572Visual loss1PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322979462311850
HP:0000572HP:0000572Visual loss1SF3B1 CL E G H2345139044ORPHA146710768605590
HP:0000572HP:0000572Visual loss1SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM15115410938603941
HP:0000572HP:0000572Visual loss1SMCHD1 CL E G H233472250Familial band heterotopiaORPHA112569729090614982
HP:0000572HP:0000572Visual loss1SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM1177013771605740
HP:0000572HP:0000572Visual loss1SOX2 CL E G H665777298ORPHA110514811195184429
HP:0000572HP:0000572Visual loss1SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11616925812611715
HP:0000572HP:0000572Visual loss1ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM1724110872604402
HP:0000572HP:0000572Visual loss1TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM15665929203613577
HP:0000572HP:0000572Visual loss1TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM133335511654606847
HP:0000572HP:0000572Visual loss1TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM1823311758602498
HP:0000572HP:0000572Visual loss1TRIM44 CL E G H54765250923ORPHA112719016612298
HP:0000572HP:0000572Visual loss1USH1C CL E G H10083231169ORPHA15172612597605242
HP:0000572HP:0000572Visual loss1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM15172612597605242
HP:0000572HP:0000572Visual loss1USH1G CL E G H124590231169ORPHA13224216356607696
HP:0000572HP:0000572Visual loss1USH2A CL E G H7399231178ORPHA11234402412601608400
HP:0000572HP:0000572Visual loss1VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1247782464118661
HP:0000572HP:0000572Visual loss1WHRN CL E G H25861231178ORPHA13249616361607928
HP:0000572HP:0000572Visual loss1XYLT2 CL E G H6413285194ORPHA1138315517608125
HP:0000572HP:0000572Visual loss1ZNF469 CL E G H8462790354ORPHA16982823216612078
HP:0000572HP:0000572Visual loss1ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM16982823216612078
HP:0000572HP:0000572Visual loss1ZNHIT3 CL E G H93262836ORPHA1110812309604500
HP:0000572HP:0000572Visual loss2ABCA4 CL E G H24604116Cone-rod dystrophy 3604116C1858806OMIM11280211234601691
HP:0000572HP:0000572Visual loss2ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM166994261300371
HP:0000572HP:0000572Visual loss2ADGRV1 CL E G H84059231178ORPHA1249240517416602851
HP:0000572HP:0000572Visual loss2ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13162446428606844
HP:0000572HP:0000572Visual loss2ARSG CL E G H22901231183ORPHA1317424102610008
HP:0000572HP:0000572Visual loss2ASPA CL E G H443314911ORPHA1102244756608034
HP:0000572HP:0000572Visual loss2ATXN7 CL E G H631494147ORPHA163610560607640
HP:0000572HP:0000572Visual loss2BAP1 CL E G H831439044ORPHA11191483950603089
HP:0000572HP:0000572Visual loss2BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15548220893300485
HP:0000572HP:0000572Visual loss2BTD CL E G H686253260Biotinidase deficiency253260C0220754OMIM12484501122609019
HP:0000572HP:0000572Visual loss2C1QTNF5 CL E G H114902605670Late-onset retinal degeneration605670C1854065OMIM1841214344608752
HP:0000572HP:0000572Visual loss2CA2 CL E G H760259730Osteopetrosis with renal tubular acidosis259730C0345407OMIM1311001373611492
HP:0000572HP:0000572Visual loss2CDH23 CL E G H64072231169ORPHA1361257213733605516
HP:0000572HP:0000572Visual loss2CEP78 CL E G H84131231183ORPHA11028225740617110
HP:0000572HP:0000572Visual loss2CIB2 CL E G H10518231169ORPHA11813724579605564
HP:0000572HP:0000572Visual loss2CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM11003852025602727
HP:0000572HP:0000572Visual loss2CLRN1 CL E G H7401231183ORPHA13923912605606397
HP:0000572HP:0000572Visual loss2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM1367512195120328
HP:0000572HP:0000572Visual loss2COL4A1 CL E G H1282180000Retinal arteries, tortuosity of180000C1867327OMIM11147842202120130
HP:0000572HP:0000572Visual loss2COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13313425223609825
HP:0000572HP:0000572Visual loss2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM1194102529116840
HP:0000572HP:0000572Visual loss2CYSLTR2 CL E G H5710539044ORPHA126318274605666
HP:0000572HP:0000572Visual loss2ELMO2 CL E G H63916606893Vascular malformation, primary intraosseous606893C1847197OMIM154017233606421
HP:0000572HP:0000572Visual loss2EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM1822813413607566
HP:0000572HP:0000572Visual loss2FLVCR1 CL E G H2898288628ORPHA11732424682609144
HP:0000572HP:0000572Visual loss2FOXC1 CL E G H2296250923ORPHA11392473800601090
HP:0000572HP:0000572Visual loss2GATA2 CL E G H26243226Lethal chondrodysplasia Seller typeORPHA11518394171137295
HP:0000572HP:0000572Visual loss2GNA11 CL E G H276739044ORPHA1111284379139313
HP:0000572HP:0000572Visual loss2GNAQ CL E G H277639044ORPHA16724390600998
HP:0000572HP:0000572Visual loss2HADHA CL E G H30305ORPHA1714734801600890
HP:0000572HP:0000572Visual loss2HARS CL E G H3035231183ORPHA1134816142810
HP:0000572HP:0000572Visual loss2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0000572HP:0000572Visual loss2HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM1171954800300256
HP:0000572HP:0000572Visual loss2HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM11015495213601860
HP:0000572HP:0000572Visual loss2IFT140 CL E G H9742266920Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia266920C1849437OMIM17283729077614620
HP:0000572HP:0000572Visual loss2KIF1A CL E G H5472836ORPHA1431405888601255
HP:0000572HP:0000572Visual loss2LAMC3 CL E G H10319614115Cortical malformations, occipital614115C3279875OMIM1184066494604349
HP:0000572HP:0000572Visual loss2LSS CL E G H4047616509Cataract 44616509C4225300OMIM192246708600909
HP:0000572HP:0000572Visual loss2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM14951428486611124
HP:0000572HP:0000572Visual loss2MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0000572HP:0000572Visual loss2MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0000572HP:0000572Visual loss2MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0000572HP:0000572Visual loss2MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0000572HP:0000572Visual loss2MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0000572HP:0000572Visual loss2MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0000572HP:0000572Visual loss2MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0000572HP:0000572Visual loss2MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0000572HP:0000572Visual loss2MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0000572HP:0000572Visual loss2MT-TS2 CL E G H4575231183ORPHA17498590085
HP:0000572HP:0000572Visual loss2MYO7A CL E G H4647231178ORPHA152721647606276903
HP:0000572HP:0000572Visual loss2MYO7A CL E G H4647231169ORPHA152721647606276903
HP:0000572HP:0000572Visual loss2MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM152721647606276903
HP:0000572HP:0000572Visual loss2NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM17124321576608072
HP:0000572HP:0000572Visual loss2NHS CL E G H4810627ORPHA1523947820300457
HP:0000572HP:0000572Visual loss2NHS CL E G H4810302350Nance-Horan syndrome302350C0796085OMIM1523947820300457
HP:0000572HP:0000572Visual loss2PAX6 CL E G H5080250923ORPHA15715708620607108
HP:0000572HP:0000572Visual loss2PCDH15 CL E G H65217231169ORPHA1122169214674605514
HP:0000572HP:0000572Visual loss2PCYT1A CL E G H513085167ORPHA1202068754123695
HP:0000572HP:0000572Visual loss2PDZD7 CL E G H79955231178ORPHA11942026257612971
HP:0000572HP:0000572Visual loss2PEX13 CL E G H5194614885Peroxisome biogenesis disorder 11B614885C3554001OMIM1102328855601789
HP:0000572HP:0000572Visual loss2PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM11794139039603604
HP:0000572HP:0000572Visual loss2POLA1 CL E G H5422301220Pigmentary disorder, reticulate, with systemic manifestations, X-linked301220C1845050OMIM122129173312040
HP:0000572HP:0000572Visual loss2POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM130014389179174763
HP:0000572HP:0000572Visual loss2PRDM5 CL E G H1110790354ORPHA1131869349614161
HP:0000572HP:0000572Visual loss2PRPS1 CL E G H5631301835Arts syndrome301835C0796028OMIM1322979462311850
HP:0000572HP:0000572Visual loss2SF3B1 CL E G H2345139044ORPHA146710768605590
HP:0000572HP:0000572Visual loss2SLC19A2 CL E G H10560249270Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness249270C0342287OMIM15115410938603941
HP:0000572HP:0000572Visual loss2SMCHD1 CL E G H233472250Familial band heterotopiaORPHA112569729090614982
HP:0000572HP:0000572Visual loss2SOST CL E G H50964269500Sclerosteosis 1269500CN032489OMIM1177013771605740
HP:0000572HP:0000572Visual loss2SOX2 CL E G H665777298ORPHA110514811195184429
HP:0000572HP:0000572Visual loss2SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11616925812611715
HP:0000572HP:0000572Visual loss2ST3GAL5 CL E G H8869609056Amish infantile epilepsy syndrome609056C1836824OMIM1724110872604402
HP:0000572HP:0000572Visual loss2TBC1D24 CL E G H57465615338Early infantile epileptic encephalopathy 16615338C3809173OMIM15665929203613577
HP:0000572HP:0000572Visual loss2TCOF1 CL E G H6949154500Treacher Collins syndrome 1154500CN119605OMIM133335511654606847
HP:0000572HP:0000572Visual loss2TFG CL E G H10342615658Spastic paraplegia 57, autosomal recessive615658C3714897OMIM1823311758602498
HP:0000572HP:0000572Visual loss2TRIM44 CL E G H54765250923ORPHA112719016612298
HP:0000572HP:0000572Visual loss2USH1C CL E G H10083231169ORPHA15172612597605242
HP:0000572HP:0000572Visual loss2USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM15172612597605242
HP:0000572HP:0000572Visual loss2USH1G CL E G H124590231169ORPHA13224216356607696
HP:0000572HP:0000572Visual loss2USH2A CL E G H7399231178ORPHA11234402412601608400
HP:0000572HP:0000572Visual loss2VCAN CL E G H1462143200Wagner syndrome143200C0339540OMIM1247782464118661
HP:0000572HP:0000572Visual loss2WHRN CL E G H25861231178ORPHA13249616361607928
HP:0000572HP:0000572Visual loss2XYLT2 CL E G H6413285194ORPHA1138315517608125
HP:0000572HP:0000572Visual loss2ZNF469 CL E G H8462790354ORPHA16982823216612078
HP:0000572HP:0000572Visual loss2ZNF469 CL E G H84627229200Corneal fragility keratoglobus, blue sclerae AND joint hypermobility229200C0268344OMIM16982823216612078
HP:0000572HP:0000572Visual loss2ZNHIT3 CL E G H93262836ORPHA1110812309604500
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000572HP:0000572Visual loss0ADAMTS10 CL E G H817943449Mehes syndromeORPHA01523913201608990
HP:0000572HP:0000572Visual loss0AHI1 CL E G H54806220493ORPHA09663421575608894
HP:0000572HP:0000572Visual loss0CDH23 CL E G H6407296253ORPHA0361257213733605516
HP:0000572HP:0000572Visual loss0CEP120 CL E G H153241220493ORPHA0920026690613446
HP:0000572HP:0000572Visual loss0CEP41 CL E G H95681220493ORPHA01129712370610523
HP:0000572HP:0000572Visual loss0COL2A1 CL E G H128090653ORPHA057011422200120140
HP:0000572HP:0000572Visual loss0COL7A1 CL E G H129489842ORPHA082816442214120120
HP:0000572HP:0000572Visual loss0COX7B CL E G H13492556ORPHA051682291300885
HP:0000572HP:0000572Visual loss0CSPP1 CL E G H79848397715ORPHA02745726193611654
HP:0000572HP:0000572Visual loss0CYP1B1 CL E G H154598976ORPHA02432392597601771
HP:0000572HP:0000572Visual loss0FBN1 CL E G H22003449Mehes syndromeORPHA0272149063603134797
HP:0000572HP:0000572Visual loss0FGFR2 CL E G H226393259ORPHA01594463689176943
HP:0000572HP:0000572Visual loss0HCCS CL E G H30522556ORPHA0142134837300056
HP:0000572HP:0000572Visual loss0INPP5E CL E G H56623220493ORPHA05446121474613037
HP:0000572HP:0000572Visual loss0KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM02130221957611725
HP:0000572HP:0000572Visual loss0KIAA0586 CL E G H9786397715ORPHA03131919960610178
HP:0000572HP:0000572Visual loss0KIF11 CL E G H38322526ORPHA0703986388148760
HP:0000572HP:0000572Visual loss0LMNB1 CL E G H400199027ORPHA0351266637150340
HP:0000572HP:0000572Visual loss0LTBP2 CL E G H405398976ORPHA0293926715602091
HP:0000572HP:0000572Visual loss0LTBP2 CL E G H40533449Mehes syndromeORPHA0293926715602091
HP:0000572HP:0000572Visual loss0MKS1 CL E G H54903220493ORPHA0524737121609883
HP:0000572HP:0000572Visual loss0MYOC CL E G H465398976ORPHA01431247610601652
HP:0000572HP:0000572Visual loss0NDUFB11 CL E G H545392556ORPHA0617720372300403
HP:0000572HP:0000572Visual loss0NOD2 CL E G H6412790340ORPHA01215575331605956
HP:0000572HP:0000572Visual loss0NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM03798367883600276
HP:0000572HP:0000572Visual loss0PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM0282178896311800
HP:0000572HP:0000572Visual loss0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM05449119603131
HP:0000572HP:0000572Visual loss0PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0000572HP:0000572Visual loss0SLC19A2 CL E G H1056049827ORPHA05115410938603941
HP:0000572HP:0000572Visual loss0SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM02732330224607882
HP:0000572HP:0000572Visual loss0SPATA7 CL E G H55812604232Leber congenital amaurosis 3604232C1858677OMIM03922920423609868
HP:0000572HP:0000572Visual loss0TAT CL E G H689828378ORPHA03621611573613018
HP:0000572HP:0000572Visual loss0TEK CL E G H701098976ORPHA03529611724600221
HP:0000572HP:0000572Visual loss0TUBB3 CL E G H10381300570ORPHA02618820772602661
HP:0000572HP:0000572Visual loss0USP8 CL E G H910196253ORPHA019812631603158
HP:0000572HP:0000572Visual loss0VHL CL E G H7428892Billet Bear syndromeORPHA0617134912687608537
HP:0000572HP:0000572Visual loss1ADAMTS10 CL E G H817943449Mehes syndromeORPHA01523913201608990
HP:0000572HP:0000572Visual loss1AHI1 CL E G H54806220493ORPHA09663421575608894
HP:0000572HP:0000572Visual loss1CDH23 CL E G H6407296253ORPHA0361257213733605516
HP:0000572HP:0000572Visual loss1CEP120 CL E G H153241220493ORPHA0920026690613446
HP:0000572HP:0000572Visual loss1CEP41 CL E G H95681220493ORPHA01129712370610523
HP:0000572HP:0000572Visual loss1COL2A1 CL E G H128090653ORPHA057011422200120140
HP:0000572HP:0000572Visual loss1COL7A1 CL E G H129489842ORPHA082816442214120120
HP:0000572HP:0000572Visual loss1COX7B CL E G H13492556ORPHA051682291300885
HP:0000572HP:0000572Visual loss1CSPP1 CL E G H79848397715ORPHA02745726193611654
HP:0000572HP:0000572Visual loss1CYP1B1 CL E G H154598976ORPHA02432392597601771
HP:0000572HP:0000572Visual loss1FBN1 CL E G H22003449Mehes syndromeORPHA0272149063603134797
HP:0000572HP:0000572Visual loss1FGFR2 CL E G H226393259ORPHA01594463689176943
HP:0000572HP:0000572Visual loss1HCCS CL E G H30522556ORPHA0142134837300056
HP:0000572HP:0000572Visual loss1INPP5E CL E G H56623220493ORPHA05446121474613037
HP:0000572HP:0000572Visual loss1KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM02130221957611725
HP:0000572HP:0000572Visual loss1KIAA0586 CL E G H9786397715ORPHA03131919960610178
HP:0000572HP:0000572Visual loss1KIF11 CL E G H38322526ORPHA0703986388148760
HP:0000572HP:0000572Visual loss1LMNB1 CL E G H400199027ORPHA0351266637150340
HP:0000572HP:0000572Visual loss1LTBP2 CL E G H405398976ORPHA0293926715602091
HP:0000572HP:0000572Visual loss1LTBP2 CL E G H40533449Mehes syndromeORPHA0293926715602091
HP:0000572HP:0000572Visual loss1MKS1 CL E G H54903220493ORPHA0524737121609883
HP:0000572HP:0000572Visual loss1MYOC CL E G H465398976ORPHA01431247610601652
HP:0000572HP:0000572Visual loss1NDUFB11 CL E G H545392556ORPHA0617720372300403
HP:0000572HP:0000572Visual loss1NOD2 CL E G H6412790340ORPHA01215575331605956
HP:0000572HP:0000572Visual loss1NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM03798367883600276
HP:0000572HP:0000572Visual loss1PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM0282178896311800
HP:0000572HP:0000572Visual loss1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM05449119603131
HP:0000572HP:0000572Visual loss1PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0000572HP:0000572Visual loss1SLC19A2 CL E G H1056049827ORPHA05115410938603941
HP:0000572HP:0000572Visual loss1SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM02732330224607882
HP:0000572HP:0000572Visual loss1SPATA7 CL E G H55812604232Leber congenital amaurosis 3604232C1858677OMIM03922920423609868
HP:0000572HP:0000572Visual loss1TAT CL E G H689828378ORPHA03621611573613018
HP:0000572HP:0000572Visual loss1TEK CL E G H701098976ORPHA03529611724600221
HP:0000572HP:0000572Visual loss1TUBB3 CL E G H10381300570ORPHA02618820772602661
HP:0000572HP:0000572Visual loss1USP8 CL E G H910196253ORPHA019812631603158
HP:0000572HP:0000572Visual loss1VHL CL E G H7428892Billet Bear syndromeORPHA0617134912687608537
HP:0000572HP:0000572Visual loss2ADAMTS10 CL E G H817943449Mehes syndromeORPHA01523913201608990
HP:0000572HP:0000572Visual loss2AHI1 CL E G H54806220493ORPHA09663421575608894
HP:0000572HP:0000572Visual loss2CDH23 CL E G H6407296253ORPHA0361257213733605516
HP:0000572HP:0000572Visual loss2CEP120 CL E G H153241220493ORPHA0920026690613446
HP:0000572HP:0000572Visual loss2CEP41 CL E G H95681220493ORPHA01129712370610523
HP:0000572HP:0000572Visual loss2COL2A1 CL E G H128090653ORPHA057011422200120140
HP:0000572HP:0000572Visual loss2COL7A1 CL E G H129489842ORPHA082816442214120120
HP:0000572HP:0000572Visual loss2COX7B CL E G H13492556ORPHA051682291300885
HP:0000572HP:0000572Visual loss2CSPP1 CL E G H79848397715ORPHA02745726193611654
HP:0000572HP:0000572Visual loss2CYP1B1 CL E G H154598976ORPHA02432392597601771
HP:0000572HP:0000572Visual loss2FBN1 CL E G H22003449Mehes syndromeORPHA0272149063603134797
HP:0000572HP:0000572Visual loss2FGFR2 CL E G H226393259ORPHA01594463689176943
HP:0000572HP:0000572Visual loss2HCCS CL E G H30522556ORPHA0142134837300056
HP:0000572HP:0000572Visual loss2INPP5E CL E G H56623220493ORPHA05446121474613037
HP:0000572HP:0000572Visual loss2KCTD7 CL E G H154881611726Epilepsy, progressive myoclonic 3611726C2673257OMIM02130221957611725
HP:0000572HP:0000572Visual loss2KIAA0586 CL E G H9786397715ORPHA03131919960610178
HP:0000572HP:0000572Visual loss2KIF11 CL E G H38322526ORPHA0703986388148760
HP:0000572HP:0000572Visual loss2LMNB1 CL E G H400199027ORPHA0351266637150340
HP:0000572HP:0000572Visual loss2LTBP2 CL E G H405398976ORPHA0293926715602091
HP:0000572HP:0000572Visual loss2LTBP2 CL E G H40533449Mehes syndromeORPHA0293926715602091
HP:0000572HP:0000572Visual loss2MKS1 CL E G H54903220493ORPHA0524737121609883
HP:0000572HP:0000572Visual loss2MYOC CL E G H465398976ORPHA01431247610601652
HP:0000572HP:0000572Visual loss2NDUFB11 CL E G H545392556ORPHA0617720372300403
HP:0000572HP:0000572Visual loss2NOD2 CL E G H6412790340ORPHA01215575331605956
HP:0000572HP:0000572Visual loss2NOTCH3 CL E G H4854125310Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy125310C0751587OMIM03798367883600276
HP:0000572HP:0000572Visual loss2PGK1 CL E G H5230300653Phosphoglycerate kinase 1 deficiency300653C1970848OMIM0282178896311800
HP:0000572HP:0000572Visual loss2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM05449119603131
HP:0000572HP:0000572Visual loss2PTPN22 CL E G H26191397Herrmann Opitz arthrogryposis syndromeORPHA014319652600716
HP:0000572HP:0000572Visual loss2SLC19A2 CL E G H1056049827ORPHA05115410938603941
HP:0000572HP:0000572Visual loss2SLC52A2 CL E G H79581614707Brown-Vialetto-Van Laere syndrome 2614707C3553538OMIM02732330224607882
HP:0000572HP:0000572Visual loss2SPATA7 CL E G H55812604232Leber congenital amaurosis 3604232C1858677OMIM03922920423609868
HP:0000572HP:0000572Visual loss2TAT CL E G H689828378ORPHA03621611573613018
HP:0000572HP:0000572Visual loss2TEK CL E G H701098976ORPHA03529611724600221
HP:0000572HP:0000572Visual loss2TUBB3 CL E G H10381300570ORPHA02618820772602661
HP:0000572HP:0000572Visual loss2USP8 CL E G H910196253ORPHA019812631603158
HP:0000572HP:0000572Visual loss2VHL CL E G H7428892Billet Bear syndromeORPHA0617134912687608537


Genes (182) :ABCA4 ABCD1 ADAMTS10 ADGRV1 AHI1 AIP ALMS1 ARL3 ARSG ASPA ATP1A3 ATP6 ATXN7 BAP1 BCOR BRAF BTD C19ORF12 C1QTNF5 C8ORF37 CA2 CDH23 CDHR1 CEP120 CEP164 CEP290 CEP41 CEP78 CFH CHM CIB2 CLCN7 CLN3 CLN5 CLN6 CLN8 CLRN1 COL18A1 COL2A1 COL4A1 COL7A1 COQ2 COX1 COX3 COX7B CSPP1 CTNNB1 CTSD CYP1B1 CYP4V2 CYSLTR2 CYTB DCN DNM1L ELMO2 EPM2A EPRS FBN1 FGFR2 FLVCR1 FOXC1 GATA2 GJB2 GJB6 GNA11 GNAQ GUCA1A HADHA HARS HCCS HLA-A HSD17B10 HSD17B4 IFT140 INPP5E INVS IQCB1 KCTD7 KIAA0586 KIF11 KIF1A LAMC3 LMNB1 LRP2 LSS LTBP2 MEN1 MERTK MFN2 MFSD8 MKS1 MMP1 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TS2 MYO7A MYOC NBAS ND1 ND2 ND4 ND4L ND5 ND6 NDUFB11 NDUFS2 NEU1 NHLRC1 NHS NOD2 NOTCH3 NPHP1 NPHP3 NPHP4 OPA1 PAX6 PCDH15 PCYT1A PDZD7 PEX13 PEX7 PGK1 PHYH PLA2G6 PMPCB PNPLA6 POLA1 POLG PPT1 PRDM5 PRPS1 PTPN22 RAX2 RP1L1 RS1 SDCCAG8 SEMA4A SF3B1 SH3BP2 SLC19A2 SLC25A46 SLC52A2 SMCHD1 SON SOST SOX2 SPATA7 SRD5A3 ST3GAL5 TAT TBC1D24 TCOF1 TEK TFG TGFBI TNFRSF11A TPP1 TRAF3IP1 TREX1 TRIM44 TRNS2 TUBB3 UCHL1 USH1C USH1G USH2A USP8 VCAN VHL WDR19 WHRN XYLT2 ZNF408 ZNF469 ZNHIT3

Diseases (138) :604116 300100 3449 231178 220493 203800 231183 314911 535000 94147 39044 300166 253260 605670 259730 231169 96253 166600 267750 90653 180000 89842 607426 2556 397715 610127 98976 606893 254780 93259 88628 250923 3226 5 179 300438 261515 266920 611726 2526 2836 614115 99027 616509 610951 276900 627 302350 90340 125310 85167 614885 300653 256600 617954 301220 203700 90354 301835 397 49827 249270 614707 2250 269500 77298 604232 612379 609056 28378 615338 154500 615658 300570 143200 892 85194 229200 2965 64 618161 601338 164500 115150 614298 614500 91347 613660 3156 126700 180 303100 204200 256731 601780 1947 600143 1571 79408 210370 610048 617951 477 602093 617781 222448 2143 613862 614800 812 256550 210000 608940 773 215470 256730 311070 312700 610283 184 616505 500150 122860 122200 612301 204500 247691 192315 617142 615491 616468 104 54595 610708 601152 610381 613587 370938
 

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