{"orpha":653722,"name":"Digenic Alport syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-653722/","orphanet_url":"https://www.orpha.net/en/disease/detail/653722","names":{"fr":{"name":"Syndrome d'Alport digénique"},"de":{"name":"Digenisches Alport-Syndrom"},"es":{"name":"Síndrome de Alport digénico"},"it":{"name":"Sindrome di Alport digenica"},"nl":{"name":"Digenetisch syndroom van Alport"},"pt":{"name":"Síndrome Alport digénico"},"pl":{"name":"Digenowy zespół Alporta"},"cs":{"name":"Digenický Alportův syndrom"},"uk":{"name":"Двогенний синдром Альпорта"}},"xrefs":[{"source":"MONDO","code":"0958104","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925113","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":63,"name":"Alport syndrome","classifications":[147,156,188,189,200,233]}],"children":[],"genes":[{"symbol":"COL4A3","name":"collagen type IV alpha 3 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"5675912[PMID]_34930753[PMID]_35547199[PMID]","hgnc":"2204","ensembl":"ENSG00000169031","omim":"120070","loci":["2q36.3"]},{"symbol":"COL4A4","name":"collagen type IV alpha 4 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"5675912[PMID]_34930753[PMID]_35547199[PMID]","hgnc":"2206","ensembl":"ENSG00000081052","omim":"120131","loci":["2q36.3"]},{"symbol":"COL4A5","name":"collagen type IV alpha 5 chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"5675912[PMID]_34930753[PMID]_35547199[PMID]","hgnc":"2207","ensembl":"ENSG00000188153","omim":"303630","loci":["Xq22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}