{"orpha":180779,"name":"Syndromic diaphragmatic or thoracic 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-180779/","orphanet_url":"https://www.orpha.net/en/disease/detail/180779","names":{"fr":{"name":"Malformation syndromique du diaphragme ou du thorax"},"de":{"name":"Zwerchfell- oder Thorax-Fehlbildung, syndromale"},"es":{"name":"Malformación torácica o diafragmática sindrómica"},"it":{"name":"Malformazione diaframmatica o toracica sindromica"},"nl":{"name":"Syndromale diafragma- of thoraxmalformatie"},"pt":{"name":"Malformação sindromática diafragmática ou torácica"},"pl":{"name":"Syndromiczna malformacja przepony lub klatki piersiowej"},"cs":{"name":"Syndromická brániční nebo hrudní malformace"},"uk":{"name":"Синдромальна діафрагмальна або грудна вада розвитку"},"zh":{"name":"综合征性横膈或胸廓畸形"},"tr":{"name":"Sendromik diyafram veya torasik malformasyon"}},"xrefs":[{"source":"MONDO","code":"15880","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680469","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]}],"children":[{"orpha":287,"name":"Classical Ehlers-Danlos syndrome","type":"Disease"},{"orpha":230839,"name":"Classical-like Ehlers-Danlos syndrome type 1","type":"Disease"},{"orpha":199,"name":"Cornelia de Lange syndrome","type":"Malformation syndrome"},{"orpha":209,"name":"Cutis laxa","type":"Clinical group"},{"orpha":2141,"name":"Diaphragmatic defect-limb deficiency-skull defect syndrome","type":"Malformation syndrome"},{"orpha":527468,"name":"Diaphragmatic hernia-short bowel-asplenia syndrome","type":"Malformation syndrome"},{"orpha":2143,"name":"Donnai-Barrow syndrome","type":"Malformation syndrome"},{"orpha":96170,"name":"Emanuel syndrome","type":"Malformation syndrome"},{"orpha":2322,"name":"Kabuki syndrome","type":"Malformation syndrome"},{"orpha":480528,"name":"Lethal hydranencephaly-diaphragmatic hernia syndrome","type":"Malformation syndrome"},{"orpha":2470,"name":"Matthew-Wood syndrome","type":"Malformation syndrome"},{"orpha":496693,"name":"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome","type":"Malformation syndrome"},{"orpha":991,"name":"PAGOD syndrome","type":"Malformation syndrome"},{"orpha":884,"name":"Pallister-Killian syndrome","type":"Malformation syndrome"},{"orpha":1335,"name":"Pentalogy of Cantrell","type":"Malformation syndrome"},{"orpha":373,"name":"Simpson-Golabi-Behmel syndrome","type":"Malformation syndrome"},{"orpha":280,"name":"Wolf-Hirschhorn syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}