{"orpha":2724,"name":"Odontomatosis-aortae esophagus stenosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bader syndrome"],"definition":"Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2724/","orphanet_url":"https://www.orpha.net/en/disease/detail/2724","names":{"fr":{"name":"Syndrome d'odontomatose-aorte-sténose oesophagienne","synonyms":["Syndrome de Bader"],"definition":"L'odontomatose - aorte - sténose oesophagienne est un syndrome malformatif caractérisé par des odontomes (masse indifférenciée dans l'oesophage) et une dysphagie sévère."},"de":{"name":"Odontomatose-Aorten- und Ösophagusstenose-Syndrom","synonyms":["Bader-Syndrom"]},"es":{"name":"Síndrome de odontomatosis-estenosis de la aorta esofágica","synonyms":["Síndrome de Bader"],"definition":"Es un síndrome caracterizado por la presencia de odontomas (masa indiferenciada del esófago) y por disfagia grave."},"it":{"name":"Odontomatosi - stenosi dell'aorta e dell'esofago","synonyms":["Sindrome di Boder"]},"nl":{"name":"Odontomatose - aortae esophagus stenosis-syndroom","synonyms":["Syndroom van Bader"],"definition":"Een malformatiesyndroom, gekenmerkt door odontoom (niet-gedifferentieerde massa van oesofagus) en ernstige dysfagie."},"pt":{"name":"Síndrome de odontomatose-estenose da aorta e esófago","synonyms":["Síndrome Bader"]},"pl":{"name":"Zębiaki - zwężenie aorty zstępującej","synonyms":["Zespół Bodera"]},"cs":{"name":"Syndrom zahrnující odontomatózu a aortoezofageální stenózu","synonyms":["Boderův syndrom"]},"uk":{"name":"Синдром одонтоматозу- аорто-стравохідного стенозу","synonyms":["Синдром Бодера"],"definition":"Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia."},"zh":{"name":"多发性牙瘤-主动脉食道狭窄综合征","synonyms":["Boder综合征"]},"tr":{"name":"Odontomatoz-aort özofagus stenoz sendromu","synonyms":["Boder sendromu"]}},"xrefs":[{"source":"OMIM","code":"164330","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D16.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008118","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537740","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1834013","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"238","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["No data available"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"4424740[PMID]_5229432[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4424740[PMID]_5229432[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002621","label":"Atherosclerosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011068","label":"Odontoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Occasional (29-5%)","criteria":null}]}}