{"orpha":108979,"name":"Syndromic diaphragmatic or abdominal wall 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-108979/","orphanet_url":"https://www.orpha.net/en/disease/detail/108979","names":{"fr":{"name":"Malformation syndromique du diaphragme ou de la paroi abdominale"},"de":{"name":"Zwerchfell- und Bauchwandfehlbildung, syndromale"},"es":{"name":"Malformación sindrómica de la pared diafragmática y abdominal"},"it":{"name":"Malformazione sindromica del diaframma e della parete addominale"},"nl":{"name":"Syndromale diafragma- of buikwandmalformatie"},"pt":{"name":"Malformação do diafragma ou da parede abdominal sindromática"},"pl":{"name":"Syndromiczna malformacja przepony lub ściany brzucha"},"cs":{"name":"Syndromické malformace bránice nebo břišní stěny"},"uk":{"name":"Синдромальний порок розвитку діафрагми або черевної стінки"},"zh":{"name":"综合征性膈或腹壁畸形"},"tr":{"name":"Sendromik diyaframatik veya karın duvarı malformasyonu"}},"xrefs":[{"source":"MONDO","code":"15216","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681759","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19864","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93942,"name":"OBSOLETE: Superior celosomia","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98043,"name":"Diaphragmatic or abdominal wall malformation","classifications":[147,182]}],"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":280403,"name":"Familial omphalocele syndrome with facial dysmorphism","type":"Malformation syndrome"},{"orpha":2059,"name":"Fryns syndrome","type":"Malformation syndrome"},{"orpha":2322,"name":"Kabuki syndrome","type":"Malformation syndrome"},{"orpha":480528,"name":"Lethal hydranencephaly-diaphragmatic hernia syndrome","type":"Malformation syndrome"},{"orpha":2736,"name":"Lethal omphalocele-cleft palate syndrome","type":"Malformation syndrome"},{"orpha":2369,"name":"Limb body wall complex","type":"Malformation syndrome"},{"orpha":2470,"name":"Matthew-Wood syndrome","type":"Malformation syndrome"},{"orpha":3164,"name":"Omphalocele syndrome, Shprintzen-Goldberg type","type":"Malformation syndrome"},{"orpha":496693,"name":"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome","type":"Malformation syndrome"},{"orpha":884,"name":"Pallister-Killian syndrome","type":"Malformation syndrome"},{"orpha":1335,"name":"Pentalogy of Cantrell","type":"Malformation syndrome"},{"orpha":2847,"name":"Pericardial and diaphragmatic defect","type":"Malformation syndrome"},{"orpha":373,"name":"Simpson-Golabi-Behmel syndrome","type":"Malformation syndrome"},{"orpha":314432,"name":"Spigelian hernia-cryptorchidism syndrome","type":"Malformation syndrome"},{"orpha":3378,"name":"Trisomy 13 syndrome","type":"Malformation syndrome"},{"orpha":3380,"name":"Trisomy 18 syndrome","type":"Malformation syndrome"},{"orpha":280,"name":"Wolf-Hirschhorn syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}