{"orpha":98990,"name":"Coralliform cataract","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-98990/","orphanet_url":"https://www.orpha.net/en/disease/detail/98990","names":{"fr":{"name":"Cataracte coralliforme"},"de":{"name":"Katarakt, koralliforme"},"es":{"name":"Catarata coraliforme"},"it":{"name":"Cataratta coralliforme"},"nl":{"name":"Koraalvormig cataract","synonyms":["Coralliform cataract"]},"pt":{"name":"Catarata coraliforme"},"pl":{"name":"Zaćma koralowa"},"cs":{"name":"Korálová katarakta"},"uk":{"name":"Коралоподібна катаракта"},"zh":{"name":"珊瑚状白内障"},"tr":{"name":"Coralliform katarakt"}},"xrefs":[{"source":"OMIM","code":"115800","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":"1951596505"},{"source":"UMLS","code":"C1392104","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":"CRYGD","name":"crystallin gamma D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21552497[PMID]_18334953[PMID]","hgnc":"2411","ensembl":"ENSG00000118231","omim":"123690","loci":["2q33.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}