Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the lens (HP:0000517)help
Parent Node:
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Cataract (HP:0000518)help
..Starting node
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Subcapsular cataract (HP:0000523)help
Term ID: 523
Name: Subcapsular cataract
Synonym: Subcapsular cataracts; Subcapsular lenticular cataracts; Subcapsular opacities
Definition: A cataract that affects the region of the lens directly beneath the capsule of the lens.
Comments:
Reference: HP:0000523
Genes and Diseases:
 
       Child Nodes:
........expandPosterior subcapsular cataract (HP:0007787) help
................... HP:0007889 Iridescent posterior subcapsular cataract
................... HP:0007935 Juvenile posterior subcapsular lenticular opacities
........expandAnterior subcapsular cataract (HP:0010923) help

 Sister Nodes: 
..expandAge-related cataract (HP:0011141) help
..expandCapsular cataract (HP:0100017) help
..expandChristmas tree cataract (HP:0025571) help
..expandDevelopmental cataract (HP:0000519) help
..expandJuvenile cataract (HP:0001118) help
..expandMembranous cataract (HP:0010922) help
..expandobsolete Total cataract (HP:0010700) help
..expandPolar cataract (HP:0010696) help
..expandPresenile cataracts (HP:0007819) help
..expandProgressive cataract (HP:0007834) help
..expandZonular cataract (HP:0010920) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000523HP:0000523Subcapsular cataract0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM12116115868613599
HP:0000523HP:0000523Subcapsular cataract0ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0000523HP:0000523Subcapsular cataract0ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0000523HP:0000523Subcapsular cataract0ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0000523HP:0000523Subcapsular cataract0CYP1B1 CL E G H1545708ORPHA12432162597601771
HP:0000523HP:0000523Subcapsular cataract0FOXC1 CL E G H2296708ORPHA11392153800601090
HP:0000523HP:0000523Subcapsular cataract0FOXE3 CL E G H2301708ORPHA131863808601094
HP:0000523HP:0000523Subcapsular cataract0FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0000523HP:0000523Subcapsular cataract0LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM12214116697603506
HP:0000523HP:0000523Subcapsular cataract0LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM12214116697603506
HP:0000523HP:0000523Subcapsular cataract0PAX6 CL E G H5080708ORPHA15714968620607108
HP:0000523HP:0000523Subcapsular cataract0PITX2 CL E G H5308708ORPHA11041369005601542
HP:0000523HP:0000523Subcapsular cataract0UNC45B CL E G H146862616279Cataract 43616279C4225389OMIM153714304611220
HP:0000523HP:0000523Subcapsular cataract1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM12116115868613599
HP:0000523HP:0000523Subcapsular cataract1ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0000523HP:0000523Subcapsular cataract1ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0000523HP:0000523Subcapsular cataract1ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0000523HP:0000523Subcapsular cataract1CYP1B1 CL E G H1545708ORPHA12432162597601771
HP:0000523HP:0000523Subcapsular cataract1FOXC1 CL E G H2296708ORPHA11392153800601090
HP:0000523HP:0000523Subcapsular cataract1FOXE3 CL E G H2301708ORPHA131863808601094
HP:0000523HP:0000523Subcapsular cataract1FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0000523HP:0000523Subcapsular cataract1LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM12214116697603506
HP:0000523HP:0000523Subcapsular cataract1LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM12214116697603506
HP:0000523HP:0000523Subcapsular cataract1PAX6 CL E G H5080708ORPHA15714968620607108
HP:0000523HP:0000523Subcapsular cataract1PITX2 CL E G H5308708ORPHA11041369005601542
HP:0000523HP:0000523Subcapsular cataract1UNC45B CL E G H146862616279Cataract 43616279C4225389OMIM153714304611220
HP:0000523HP:0000523Subcapsular cataract2ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM12116115868613599
HP:0000523HP:0000523Subcapsular cataract2ABHD5 CL E G H5109998907ORPHA13915521396604780
HP:0000523HP:0000523Subcapsular cataract2ABHD5 CL E G H51099275630Triglyceride storage disease with ichthyosis275630C0268238OMIM13915521396604780
HP:0000523HP:0000523Subcapsular cataract2ALMS1 CL E G H7840203800Alstrom syndrome203800C0268425OMIM13161745428606844
HP:0000523HP:0000523Subcapsular cataract2CYP1B1 CL E G H1545708ORPHA12432162597601771
HP:0000523HP:0000523Subcapsular cataract2FOXC1 CL E G H2296708ORPHA11392153800601090
HP:0000523HP:0000523Subcapsular cataract2FOXE3 CL E G H2301708ORPHA131863808601094
HP:0000523HP:0000523Subcapsular cataract2FZD4 CL E G H8322133780Exudative vitreoretinopathy 1133780C1851402OMIM1911964042604579
HP:0000523HP:0000523Subcapsular cataract2LRP5 CL E G H4041133780Exudative vitreoretinopathy 1133780C1851402OMIM12214116697603506
HP:0000523HP:0000523Subcapsular cataract2LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM12214116697603506
HP:0000523HP:0000523Subcapsular cataract2PAX6 CL E G H5080708ORPHA15714968620607108
HP:0000523HP:0000523Subcapsular cataract2PITX2 CL E G H5308708ORPHA11041369005601542
HP:0000523HP:0000523Subcapsular cataract2UNC45B CL E G H146862616279Cataract 43616279C4225389OMIM153714304611220
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (28) :ABHD12 ABHD5 ADAMTS18 ALMS1 ARL2BP CHMP4B CNBP CYP1B1 EYS FOXC1 FOXE3 FZD4 GJA8 IMPDH1 IMPG2 LRP5 NF2 OAT OFD1 OPA3 PAX6 PITX2 RBP3 REEP6 SPRTN TULP1 UNC45B ZNF408

Diseases (25) :612674 98907 275630 203800 708 133780 601813 616279 615458 615434 605387 602772 116200 180105 613581 258870 300424 67036 615233 617304 616200 600132 616469 602668 101000
 

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