{"orpha":99715,"name":"MASS syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Mitral valve-aorta-skeleton-skin syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Marfan syndrome type 1","url":"https://raremap.alftech.space/d/ORPHA-99715/","orphanet_url":"https://www.orpha.net/en/disease/detail/99715","names":{"fr":{"name":"Syndrome MASS","synonyms":["Syndrome de prolapsus de la valve mitrale-anévrisme aortique-vergetures-signes squelettiques"]},"de":{"name":"MASS-Syndrom","synonyms":["Mitralklappenprolaps - Aortenerweiterung - Striae - Skelettbeteiligung"]},"es":{"name":"Síndrome MASS","synonyms":["Síndrome de válvula mitral-aorta-esqueleto-piel"]},"it":{"name":"Prolasso della valvola mitrale - aneurisma aortico - smagliature - difetti scheletrici"},"nl":{"name":"MASS-syndroom","synonyms":["Mitralisklep-aorta-skelet-huidsyndroom"]},"pt":{"name":"Síndrome MASS"},"pl":{"name":"Zespół MASS","synonyms":["Zespół zastawka mitralna-aorta-szkielet-skóra"]},"cs":{"name":"Syndrom zahrnující postižení mitrální chlopně, aorty, kostry a kůže","synonyms":["MASS syndrom"]},"uk":{"name":"Синдром MASS","synonyms":["Синдром мітрального клапана-аорти-скелета-шкіри"]},"zh":{"name":"Mass综合征","synonyms":["二尖瓣-主动脉-骨骼-皮肤综合征"]},"tr":{"name":"MASS sendromu","synonyms":["Mitral kapak-aort-iskelet-deri sendromu"]}},"xrefs":[{"source":"OMIM","code":"604308","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536030","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":284963,"name":"Marfan syndrome type 1"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}