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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Zonular cataract (HP:0010920)help
Term ID: 10920
Name: Zonular cataract
Synonym:
Definition: Zonular cataracts are defined to be cataracts that affect specific regions of the lens.
Comments:
Reference: HP:0010920
Genes and Diseases:
 
       Child Nodes:
........expandPunctate cataract (HP:0007648) help
................... HP:0007976 Cerulean cataract
................... HP:0010693 Pulverulent cataract
................... HP:0010925 Nuclear punctate cataract
........expandLamellar cataract (HP:0007971) help
................... HP:0010694 Lamellar pulverulent cataract
................... HP:0025558 Lamellar cataract with riders
........expandSutural cataract (HP:0010695) help
................... HP:0008031 Posterior Y-sutural cataract
........expandCoralliform cataract (HP:0010921) help
........expandCoronary cataract (HP:0025559) help
........expandNuclear cataract (HP:0100018) help
................... HP:0007657 Diffuse nuclear cataract
................... HP:0008024 Congenital nuclear cataract
................... HP:0010699 Triangular nuclear cataract
................... HP:0010925 Nuclear punctate cataract
................... HP:0010926 Aculeiform cataract
........expandCortical cataract (HP:0100019) help
................... HP:0007795 Anterior cortical cataract
................... HP:0010924 Posterior cortical cataract

 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
..expandSubcapsular cataract (HP:0000523) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010920HP:0010920Zonular cataract0GJA3 CL E G H2700601885Zonular pulverulent cataract 3601885C1866078OMIM1431914277121015
HP:0010920HP:0010920Zonular cataract0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM112220289949603780
HP:0010920HP:0010920Zonular cataract1GJA3 CL E G H2700601885Zonular pulverulent cataract 3601885C1866078OMIM1431914277121015
HP:0010920HP:0010920Zonular cataract1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM112220289949603780
HP:0010920HP:0010920Zonular cataract2GJA3 CL E G H2700601885Zonular pulverulent cataract 3601885C1866078OMIM1431914277121015
HP:0010920HP:0010920Zonular cataract2RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM112220289949603780
HP:0010920HP:0010920Zonular cataract3GJA3 CL E G H2700601885Zonular pulverulent cataract 3601885C1866078OMIM1431914277121015
HP:0010920HP:0010920Zonular cataract3RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM112220289949603780
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010920HP:0010920Zonular cataract0BAP1 CL E G H831439044ORPHA01191261950603089
HP:0010920HP:0010920Zonular cataract0CYSLTR2 CL E G H5710539044ORPHA026218274605666
HP:0010920HP:0010920Zonular cataract0GNA11 CL E G H276739044ORPHA011624379139313
HP:0010920HP:0010920Zonular cataract0GNAQ CL E G H277639044ORPHA06584390600998
HP:0010920HP:0010920Zonular cataract0SF3B1 CL E G H2345139044ORPHA046410768605590
HP:0010920HP:0010920Zonular cataract1BAP1 CL E G H831439044ORPHA01191261950603089
HP:0010920HP:0010920Zonular cataract1CYSLTR2 CL E G H5710539044ORPHA026218274605666
HP:0010920HP:0010920Zonular cataract1GNA11 CL E G H276739044ORPHA011624379139313
HP:0010920HP:0010920Zonular cataract1GNAQ CL E G H277639044ORPHA06584390600998
HP:0010920HP:0010920Zonular cataract1SF3B1 CL E G H2345139044ORPHA046410768605590
HP:0010920HP:0010920Zonular cataract2BAP1 CL E G H831439044ORPHA01191261950603089
HP:0010920HP:0010920Zonular cataract2CYSLTR2 CL E G H5710539044ORPHA026218274605666
HP:0010920HP:0010920Zonular cataract2GNA11 CL E G H276739044ORPHA011624379139313
HP:0010920HP:0010920Zonular cataract2GNAQ CL E G H277639044ORPHA06584390600998
HP:0010920HP:0010920Zonular cataract2SF3B1 CL E G H2345139044ORPHA046410768605590
HP:0010920HP:0010920Zonular cataract3BAP1 CL E G H831439044ORPHA01191261950603089
HP:0010920HP:0010920Zonular cataract3CYSLTR2 CL E G H5710539044ORPHA026218274605666
HP:0010920HP:0010920Zonular cataract3GNA11 CL E G H276739044ORPHA011624379139313
HP:0010920HP:0010920Zonular cataract3GNAQ CL E G H277639044ORPHA06584390600998
HP:0010920HP:0010920Zonular cataract3SF3B1 CL E G H2345139044ORPHA046410768605590


Genes (30) :BAP1 BEST1 BFSP1 CFAP410 CHMP4B CRYBA1 CRYBA4 CRYBB1 CRYBB2 CRYBB3 CRYGC CYSLTR2 FTL GJA3 GJA8 GNA11 GNAQ HSF4 LIM2 MAF MIP NF2 NHS OCRL OPA3 RECQL4 SEC23A SF3B1 VIM WFS1

Diseases (28) :39044 601885 268400 611391 617547 605387 610425 611544 601547 609741 604307 600886 116200 116800 615274 101000 302200 607812 116400 193220 600881 610202 302350 67036 50814 116300 615277 309000
 

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