{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","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-471383/","orphanet_url":"https://www.orpha.net/en/disease/detail/471383","names":{"fr":{"name":"Anomalies congénitales multiples/syndrome dysmorphique létal d'origine génétique"},"de":{"name":"Letale multiple kongenitale Anomalien/Dysmorphien-Syndrom, genetisch bedingtes"},"es":{"name":"Anomalías congénitas múltiples/síndrome dismórfico letal de origen genético"},"it":{"name":"Sndrome genetica letale da dismorfismi/anomalie congenite multiple"},"nl":{"name":"Genetische letale meervoudige congenitale anomalieën/dysmorfiesyndroom"},"pt":{"name":"Síndrome de anomalias congénitas múltiplas letais genéticas/síndrome dismórfica"},"pl":{"name":"Genetyczne śmiertelne mnogie wady wrodzone/zespół dysmorficzny"},"cs":{"name":"Geneticky podmíněný letální syndrom s mnohočetnými vrozenými anomáliemi/dysmorfismem"},"uk":{"name":"Генетично обумовлені летальні множинні вроджені аномалії/дисморфічний синдром"},"zh":{"name":"遗传致死性多发性先天畸形综合征"},"tr":{"name":"Genetik letal çoklu doğumsal anomaliler/dismorfik sendrom"}},"xrefs":[{"source":"UMLS","code":"C5681265","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183533,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome","classifications":[156]}],"children":[{"orpha":1234,"name":"Bartsocas-Papas syndrome","type":"Malformation syndrome"},{"orpha":527468,"name":"Diaphragmatic hernia-short bowel-asplenia syndrome","type":"Malformation syndrome"},{"orpha":1895,"name":"Edinburgh malformation syndrome","type":"Malformation syndrome"},{"orpha":199332,"name":"Endocrine-cerebro-osteodysplasia syndrome","type":"Malformation syndrome"},{"orpha":2077,"name":"German syndrome","type":"Malformation syndrome"},{"orpha":580933,"name":"Lethal brain and heart developmental defects","type":"Malformation syndrome"},{"orpha":1972,"name":"Lethal faciocardiomelic dysplasia","type":"Malformation syndrome"},{"orpha":444069,"name":"Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome","type":"Malformation syndrome"},{"orpha":480528,"name":"Lethal hydranencephaly-diaphragmatic hernia syndrome","type":"Malformation syndrome"},{"orpha":2570,"name":"Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome","type":"Malformation syndrome"},{"orpha":33108,"name":"Lethal multiple pterygium syndrome","type":"Malformation syndrome"},{"orpha":210144,"name":"Lethal polymalformative syndrome, Boissel type","type":"Malformation syndrome"},{"orpha":615954,"name":"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome","type":"Clinical syndrome"},{"orpha":2432,"name":"Macrosomia-microphthalmia-cleft palate syndrome","type":"Malformation syndrome"},{"orpha":564,"name":"Meckel syndrome","type":"Malformation syndrome"},{"orpha":2547,"name":"Microphthalmia-microtia-fetal akinesia syndrome","type":"Malformation syndrome"},{"orpha":500135,"name":"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome","type":"Malformation syndrome"},{"orpha":633099,"name":"PAICS deficiency","type":"Malformation syndrome"},{"orpha":1780,"name":"Thakker-Donnai syndrome","type":"Malformation syndrome"},{"orpha":3376,"name":"Triploidy syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}