{"orpha":108961,"name":"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-108961/","orphanet_url":"https://www.orpha.net/en/disease/detail/108961","names":{"fr":{"name":"Malformation syndromique de l'oesophage"},"de":{"name":"Ösophagusfehlbildung, syndromale"},"es":{"name":"Malformaciones esofágicas sindrómicas"},"it":{"name":"Malformazioni sindromiche dell'esofago"},"nl":{"name":"Syndromale oesofageale malformatie"},"pt":{"name":"Malformação esofágica sindromática"},"pl":{"name":"Syndromiczna malformacja przełyku"},"cs":{"name":"Syndromické malformace jícnu"},"uk":{"name":"Синдромальна вада розвитку стравоходу"},"zh":{"name":"综合征性食管畸形"},"tr":{"name":"Sendromik özofagus malformasyonu"}},"xrefs":[{"source":"MONDO","code":"15208","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681763","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19856","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":[147,182]}],"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"},{"orpha":887,"name":"VACTERL/VATER association","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}