{"orpha":98988,"name":"Early-onset anterior polar cataract","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Early-onset anterior subcapsular cataract"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-98988/","orphanet_url":"https://www.orpha.net/en/disease/detail/98988","names":{"fr":{"name":"Cataracte polaire antérieure précoce","synonyms":["Cataracte sous capsulaire antérieure précoce"]},"de":{"name":"Katarakt, anteriore polare, früh-beginnende","synonyms":["Katarakt, anteriore subkapsuläre"]},"es":{"name":"Catarata polar anterior de inicio precoz","synonyms":["Catarata subcapsular anterior de inicio precoz"]},"it":{"name":"Cataratta polare anteriore a esordio precoce","synonyms":["Cataratta subcapsulare anteriore a esordio precoce"]},"nl":{"name":"Anterieur polair cataract met vroege aanvang","synonyms":["Anterieur subcapsulair cataract met vroege aanvang"]},"pt":{"name":"Catarata polar anterior de início precoce","synonyms":["Catarata subcapsular anterior de início precoce"]},"pl":{"name":"Zaćma biegunowa przednia o wczesnym początku","synonyms":["Zaćma podtorebkowa przednia o wczesnym początku"]},"cs":{"name":"Přední polární katarakta s časným nástupem","synonyms":["Přední subkapsulární katarakta s časným nástupem"]},"uk":{"name":"Рання передня полярна катаракта","synonyms":["Рання передня субкапсулярна катаракта"]},"zh":{"name":"早发性前极性白内障","synonyms":["早发性前囊下白内障"]},"tr":{"name":"Erken başlangıçlı anterior polar katarakt","synonyms":["Erken başlangıçlı anterior subkapsüler katarakt"]}},"xrefs":[{"source":"OMIM","code":"601202","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q12.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA12.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1258137397"},{"source":"MONDO","code":"0020373","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538282","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855179","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1140","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":98992,"name":"Early-onset partial cataract","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"CRYAA","name":"crystallin alpha A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22065922[PMID]","hgnc":"2388","ensembl":"ENSG00000160202","omim":"123580","loci":["21q22.3"]},{"symbol":"CRYBA2","name":"crystallin beta A2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23508780[PMID]","hgnc":"2395","ensembl":"ENSG00000163499","omim":"600836","loci":["2q35"]},{"symbol":"CRYBB3","name":"crystallin beta B3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23508780[PMID]","hgnc":"2400","ensembl":"ENSG00000100053","omim":"123630","loci":["22q11.23"]},{"symbol":"CRYGB","name":"crystallin gamma B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23288985[PMID]","hgnc":"2409","ensembl":"ENSG00000182187","omim":"123670","loci":["2q33.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}