{"orpha":137862,"name":"Martínez-Frías syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome","url":"https://raremap.alftech.space/d/ORPHA-137862/","orphanet_url":"https://www.orpha.net/en/disease/detail/137862","names":{"fr":{"name":"Syndrome de Martínez-Frías","synonyms":["Syndrome d'atrésie biliaire duodénale et extrahépatique-hypoplasie du pancréas-malrotation intestinale"]},"de":{"name":"Martínez-Frías-Syndrom","synonyms":["Duodenale und extrahepatische Gallengangatresie - hypoplastisches Pankreas - intestinale Malrotation"]},"es":{"name":"Síndrome de Martínez-Frías","synonyms":["Atresia biliar extrahepática y duodenal-páncreas hipoplásico-malrotación intestinal"]},"it":{"name":"Sindrome di Martínez-Frías","synonyms":["Atresia biliare extraepatica e duodenale - ipoplasia del pancreas - malrotazione intestinale"]},"nl":{"name":"Syndroom van Mártinez-Frías","synonyms":["Duodenale en extrahepatische galatresie - hypoplastische pancreas - intestinale malrotatie-syndroom"]},"pt":{"name":"Síndrome Martinez-Frias"},"pl":{"name":"Zespół Martineza i Friasa","synonyms":["Atrezja żółciowych dróg dwunastniczych i pozawątrobowych- hipoplastyczna trzustka - niedokonany zwrot trzewi"]},"cs":{"name":"Syndrom Martínez-Fríasové","synonyms":["Syndrom zahrnující duodenální a extrahepatální biliární atrézii, hypoplastický pankreas a malrotaci střeva"]},"uk":{"name":"Синдром Мартінеса-Фріаса","synonyms":["Синдром атрезїя дванадцятипалої кишки та позапечінкових жовчних шляхів - гіпоплазії підшлункової залози - мальротації кишечника"]},"zh":{"name":"MartÝnez-FrÝas综合征","synonyms":["十二指肠和肝外胆道闭锁-胰腺发育不良-肠旋转不良综合征"]},"tr":{"name":"Martínez-Frías sendromu","synonyms":["Duodenal ve ekstrahepatik biliyer atrezi-hipoplastik pankreas-intestinal malrotasyon sendromu"]}},"xrefs":[{"source":"OMIM","code":"601346","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832443","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":293864,"name":"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}