{"orpha":371445,"name":"Genetic syndromic esophageal malformation","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-371445/","orphanet_url":"https://www.orpha.net/en/disease/detail/371445","names":{"fr":{"name":"Malformation syndromique de l'oesophage d'origine génétique"},"de":{"name":"Ösophagusfehlbildung, genetische syndromale"},"es":{"name":"Malformación esofágica sindrómica genética"},"it":{"name":"Malformazione esofagea sindromica genetica"},"nl":{"name":"Genetische syndromale oesofageale malformatie","synonyms":["Genetische syndromale malformatie van de slokdarm"]},"pt":{"name":"Malformação esofágica sindromática genética"},"pl":{"name":"Syndromiczne malformacje przełyku uwarunkowane genetycznie"},"cs":{"name":"Geneticky podmíněné syndromické malformace jícnu"},"uk":{"name":"Генетично обумовлена синдромальна вада розвитку стравоходу"},"zh":{"name":"遗传综合征性食管畸形"},"tr":{"name":"Genetik sendromik özofagus malformasyonu"}},"xrefs":[{"source":"UMLS","code":"C5681148","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":88993,"name":"Esophageal malformation","classifications":[156]}],"children":[{"orpha":929,"name":"Achalasia-microcephaly syndrome","type":"Malformation syndrome"},{"orpha":77298,"name":"Anophthalmia/microphthalmia-esophageal atresia syndrome","type":"Malformation syndrome"},{"orpha":514352,"name":"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome","type":"Malformation syndrome"},{"orpha":1305,"name":"Feingold syndrome","type":"Malformation syndrome"},{"orpha":869,"name":"Triple A syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}