{"orpha":108995,"name":"Syndromic respiratory or mediastinal 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-108995/","orphanet_url":"https://www.orpha.net/en/disease/detail/108995","names":{"fr":{"name":"Malformation syndromique de l'appareil respiratoire ou du médiastin"},"de":{"name":"Fehlbildung des respiratorischen Systems oder des Mediastinums, syndromale Formen"},"es":{"name":"Malformación respiratoria o mediastinal sindrómica"},"it":{"name":"Malformazione respiratoria o del mediastino sindromica"},"nl":{"name":"Syndromale respiratoire of mediastinale malformatie"},"pt":{"name":"Malformação respiratória ou do mediastino sindromática"},"pl":{"name":"Syndromiczna malformacja układu oddechowego lub śródpiersia"},"cs":{"name":"Syndromické respirační nebo mediastinální malformace"},"uk":{"name":"Синдромальна респіраторна або медіастинальна вада розвитку"},"zh":{"name":"综合征性呼吸或纵隔畸形"},"tr":{"name":"Sendromik solunum veya mediyastinal malformasyon"}},"xrefs":[{"source":"MONDO","code":"15222","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681752","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19868","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":97962,"name":"Rare surgical thoracic disease","classifications":[186]},{"orpha":98045,"name":"Respiratory or mediastinal malformation","classifications":[147]}],"children":[{"orpha":994,"name":"Fetal akinesia deformation sequence","type":"Malformation syndrome"},{"orpha":3035,"name":"Growth delay-hydrocephaly-lung hypoplasia syndrome","type":"Malformation syndrome"},{"orpha":2407,"name":"Laryngo-onycho-cutaneous syndrome","type":"Disease"},{"orpha":1486,"name":"Lethal congenital contracture syndrome type 1","type":"Malformation syndrome"},{"orpha":1120,"name":"Lung agenesis-heart defect-thumb anomalies syndrome","type":"Malformation syndrome"},{"orpha":2470,"name":"Matthew-Wood syndrome","type":"Malformation syndrome"},{"orpha":2745,"name":"Opitz GBBB syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}