{"orpha":284963,"name":"Marfan syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MFS1"],"definition":null,"note":"This disease is described under Marfan syndrome","url":"https://raremap.alftech.space/d/ORPHA-284963/","orphanet_url":"https://www.orpha.net/en/disease/detail/284963","names":{"fr":{"name":"Syndrome de Marfan type 1","synonyms":["MFS1"]},"de":{"name":"Marfan-Syndrom Typ 1","synonyms":["MFS1"]},"es":{"name":"Síndrome de Marfan tipo 1","synonyms":["MFS1"]},"it":{"name":"Sindrome di Marfan, tipo 1","synonyms":["MFS1"]},"nl":{"name":"Syndroom van Marfan type 1","synonyms":["MFS1"]},"pt":{"name":"Síndrome Marfan tipo 1"},"pl":{"name":"Zespół Marfana typu 1","synonyms":["MFS1"]},"cs":{"name":"Marfanův syndrom, typ 1","synonyms":["MFS1"]},"uk":{"name":"Синдром Марфана, тип 1","synonyms":["MFS1"]},"zh":{"name":"马凡综合征1型","synonyms":["MFS1"]},"tr":{"name":"Marfan sendromu tip 1","synonyms":["MFS1"]}},"xrefs":[{"source":"OMIM","code":"154700","qualifier":"E","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":"1420571785"},{"source":"UMLS","code":"C4721845","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":99715,"name":"MASS syndrome","status":"inactive"}],"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":"FBN1","name":"fibrillin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3603","ensembl":"ENSG00000166147","omim":"134797","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[],"phenotypes":null}