{"orpha":99818,"name":"Turcot syndrome with polyposis","type":"Clinical subtype","group":"Subtype of disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":[],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial adenomatous polyposis","url":"https://raremap.alftech.space/d/ORPHA-99818/","orphanet_url":"https://www.orpha.net/en/disease/detail/99818","names":{"fr":{"name":"Syndrome de Turcot avec polypose"},"de":{"name":"Turcot-Syndrom mit Polyposis"},"es":{"name":"Síndrome de Turcot con poliposis"},"it":{"name":"Sindrome di Turcot con poliposi"},"nl":{"name":"Syndroom van Turcot met polyposis"},"pt":{"name":"Síndrome de Turcot com polipose"},"pl":{"name":"Zespół Turcota z polipowatością"},"cs":{"name":"Turcotův syndrom s polypózou"},"uk":{"name":"Синдром Турко з поліпозом","definition":"Turcot syndrome with polyposis or Turcot syndrome type 2 is a form of familial adematous polyposis, characterized by the concurrence of thousands of colonic adenomatous polyposis or colorectal cancer (CRC) and a primary central nervous system tumor (principally medulloblastoma). It is also associated with pigmented ocular fundus lesions."},"zh":{"name":"Turcot综合征息肉病型","definition":"Turcot综合征合并息肉或Turcot综合征2型是家族性黏液性息肉病的一种形式，以数千颗结肠腺瘤性息肉或结直肠癌(CRC)和原发性中枢神经系统肿瘤(主要是髓母细胞瘤)同时存在为特征。它也与色素性眼底病变有关。"},"tr":{"name":"Polipoz ile seyreden Turcot sendromu"}},"xrefs":[{"source":"MONDO","code":"0020497","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681818","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":733,"name":"Familial adenomatous polyposis"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}