{"orpha":284973,"name":"Marfan syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MFS2"],"definition":null,"note":"This disease is described under Marfan syndrome","url":"https://raremap.alftech.space/d/ORPHA-284973/","orphanet_url":"https://www.orpha.net/en/disease/detail/284973","names":{"fr":{"name":"Syndrome de Marfan type 2","synonyms":["MFS2"]},"de":{"name":"Marfan-Syndrom Typ 2","synonyms":["MFS2"]},"es":{"name":"Síndrome de Marfan tipo 2","synonyms":["MFS2"]},"it":{"name":"Sindrome di Marfan, tipo 2","synonyms":["MFS2"]},"nl":{"name":"Syndroom van Marfan type 2","synonyms":["MFS2"]},"pt":{"name":"Síndrome de Marfan tipo 2"},"pl":{"name":"Zespół Marfana typu 2","synonyms":["MFS2"]},"cs":{"name":"Marfanův syndrom, typ 2","synonyms":["MFS2"]},"uk":{"name":"Синдром Марфана, тип 2","synonyms":["MFS2"]},"zh":{"name":"马凡综合征2型","synonyms":["MFS2"]},"tr":{"name":"Marfan sendromu tip 2","synonyms":["MFS2"]}},"xrefs":[{"source":"OMIM","code":"610168","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1982850796"},{"source":"UMLS","code":"C2931058","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":558,"name":"Marfan syndrome","classifications":[147,156,186,189,196,198,199]}],"children":[],"genes":[{"symbol":"TGFBR1","name":"transforming growth factor beta receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16799921[PMID]_18781618[PMID]_","hgnc":"11772","ensembl":"ENSG00000106799","omim":"190181","loci":["9q22.33"]},{"symbol":"TGFBR2","name":"transforming growth factor beta receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11773","ensembl":"ENSG00000163513","omim":"190182","loci":["3p24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[],"phenotypes":null}