{"orpha":285014,"name":"Rare disease with thoracic aortic aneurysm and aortic dissection","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-285014/","orphanet_url":"https://www.orpha.net/en/disease/detail/285014","names":{"fr":{"name":"Maladie rare avec anévrisme et dissection de l'aorte thoracique"},"de":{"name":"Seltene Krankheit mit thorakalem Aortenaneurysma und Aortendissektion"},"es":{"name":"Enfermedad rara con aneurisma aórtico torácico y disección aórtica"},"it":{"name":"Malattia rara con aneurisma dell'aorta toracica e dissezione aortica","synonyms":["TAAD familiare"]},"nl":{"name":"Zeldzame ziekte met thoracaal aorta-aneurysma en aorta-dissectie"},"pt":{"name":"Aneurisma e disseção torácica familiar"},"pl":{"name":"Rzadkie choroby z tętniakiem aorty piersiowej i rozwarstwieniem aorty"},"cs":{"name":"Vzácná onemocnění s aneuryzmatem hrudní aorty a aortální disekcí"},"uk":{"name":"Рідкісне захворювання з аневризмою грудного відділу аорти та розшаруванням аорти"},"zh":{"name":"合并胸主动脉瘤和主动脉夹层的罕见疾病"},"tr":{"name":"Torasik aort anevrizması ve aort diseksiyonu ile seyreden nadir hastalık"}},"xrefs":[{"source":"MONDO","code":"17311","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681014","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1057,"name":"OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome","status":"inactive"}],"preferential_parent":{"orpha":98028,"name":"Rare circulatory system disease"},"parents":[{"orpha":233655,"name":"Rare genetic vascular disease","classifications":[156,198]},{"orpha":97962,"name":"Rare surgical thoracic disease","classifications":[186]}],"children":[{"orpha":284984,"name":"Aneurysm-osteoarthritis syndrome","type":"Disease"},{"orpha":3342,"name":"Arterial tortuosity syndrome","type":"Malformation syndrome"},{"orpha":229,"name":"Familial aortic dissection","type":"Disease"},{"orpha":402075,"name":"Familial bicuspid aortic valve","type":"Morphological anomaly"},{"orpha":91387,"name":"Familial thoracic aortic aneurysm and aortic dissection","type":"Disease"},{"orpha":60030,"name":"Loeys-Dietz syndrome","type":"Malformation syndrome"},{"orpha":558,"name":"Marfan syndrome","type":"Disease"},{"orpha":404463,"name":"Multisystemic smooth muscle dysfunction syndrome","type":"Disease"},{"orpha":284979,"name":"Neonatal Marfan syndrome","type":"Disease"},{"orpha":286,"name":"Vascular Ehlers-Danlos syndrome","type":"Disease"},{"orpha":622925,"name":"X-linked severe syndromic thoracic aortic aneurysm and dissection","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}