{"orpha":300576,"name":"Oligodontia-cancer predisposition syndrome","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to AXIN2-related attenuated familial adenomatous polyposis","url":"https://raremap.alftech.space/d/ORPHA-300576/","orphanet_url":"https://www.orpha.net/en/disease/detail/300576","names":{"fr":{"name":"Syndrome de prédisposition au cancer-oligodontie","synonyms":["Syndrome de dysplasie ectodermique autosomique dominante-prédisposition au cancer"]},"de":{"name":"Oligodontie-Krebs-Prädispositionssyndrom","synonyms":["Ektodermales Dysplasie-Krebs-Prädispositionssyndrom, autosomal-dominantes"]},"es":{"name":"Oligodoncia-síndrome de predisposición al cáncer","synonyms":["Displasia ectodérmica autosómica dominante-síndrome de predisposición al cáncer"]},"it":{"name":"Sindrome oligodontia-predisposizione al cancro","synonyms":["Displasia ectodermica autosomica dominante - sindroma da predisposizione al cancro"]},"nl":{"name":"Oligodontie - kankerpredispositie-syndroom","synonyms":["Autosomaal dominante ectodermale dysplasie - kankerpredispositie-syndroom"]},"pt":{"name":"Síndrome de displasia - neoplasia ectodérmica autossómica dominante"},"pl":{"name":"Zespół oligodoncja - predyspozycja do nowotworów","synonyms":["Zespół autosomalna dominująca dysplazja ektodermalna - predyspozycja do nowotworów"]},"cs":{"name":"Syndrom zahrnující oligodoncii a predispozici k nádorům","synonyms":["Syndrom zahrnující autozomálně dominantní ektodermální dysplázii a predispozici k nádorům"]},"uk":{"name":"Синдром олігодонтії-схильності до раку","synonyms":["Аутосомно-домінантний синдром схильності до ектодермальної дисплазії та раку"],"definition":"A rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated."},"zh":{"name":"少牙畸形-癌症易感综合征","synonyms":["常染色体显性遗传外胚层发育不良-癌症易感性综合征"],"definition":"少牙畸形-癌症易感综合征是一种罕见的遗传性牙病，其特征是先天性六颗或六颗以上恒牙缺失（不包括第三磨牙），患恶性肿瘤风险增高，包括胃肠道息肉、早发性大肠癌和/或乳腺癌。可能与外胚层发育不良（表现为毛发和/或眉毛稀疏）相关。"},"tr":{"name":"Oligodonti-kanser yatkınlık sendromu","synonyms":["Otozomal baskın ektodermal displazi-kanser yatkınlık sendromu"]}},"xrefs":[{"source":"MONDO","code":"0012075","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4750788","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":401911,"name":"AXIN2-related polyposis"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}