{"orpha":216718,"name":"Isolated congenitally uncorrected transposition of the great arteries","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Isolated congenitally uncorrected transposition of the great vessels"],"definition":null,"note":"This disease is described under Congenitally uncorrected transposition of the great arteries","url":"https://raremap.alftech.space/d/ORPHA-216718/","orphanet_url":"https://www.orpha.net/en/disease/detail/216718","names":{"fr":{"name":"Transposition isolée congénitalement non corrigée des gros vaisseaux","synonyms":["Transposition isolée congénitalement non corrigée des grosses artères"]},"de":{"name":"Isolierte kongenitale unkorrigierte Transposition der großen Arterien","synonyms":["Isolierte kongenitale nicht korrigierte Transposition der großen Gefäße"]},"es":{"name":"Transposición de las grandes arterias congénitamente no corregida aislada","synonyms":["Transposición de los grandes vasos congénitamente no corregida aislada"]},"it":{"name":"Trasposizione congenitamente corretta isolata delle grandi arterie","synonyms":["Trasposizione congenitamente corretta isolata dei grandi vasi"]},"nl":{"name":"Geïsoleerde congenitaal ongecorrigeerde transpositie van grote slagaders","synonyms":["Geïsoleerde congenitaal ongecorrigeerde transpositie van grote bloedvaten"]},"pt":{"name":"Transposição das grandes artérias, isolada, corrigida congenitamente"},"pl":{"name":"Izolowane wrodzone nieskorygowane przełożenie wielkich pni tętniczych","synonyms":["Izolowane wrodzone nieskorygowane przełożenie wielkich naczyń"]},"cs":{"name":"Izolovaná vrozeně neopravená transpozice velkých tepen","synonyms":["Izolovaná vrozeně neopravená transpozice velkých cév"]},"uk":{"name":"Ізольована вроджена некоригована транспозиція магістральних артерій","synonyms":["Ізольована вроджена некоригована транспозиція магістральних судин"]},"zh":{"name":"孤立性先天未矫正型大动脉转位","synonyms":["孤立性先天性未矫正型大血管转位"]},"tr":{"name":"Büyük arterlerin izole doğumsal düzeltilmemiş transpozisyonu","synonyms":["Büyük damarların izole doğumsal yanlış transpozisyonu"]}},"xrefs":[{"source":"ICD-10","code":"Q20.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016302","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679810","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":860,"name":"Congenitally uncorrected transposition of the great arteries","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"CFC1","name":"cryptic, EGF-CFC family member 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"11799476[PMID]","hgnc":"18292","ensembl":"ENSG00000136698","omim":"605194","loci":["2q21.1"]},{"symbol":"GDF1","name":"growth differentiation factor 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"4214","ensembl":"ENSG00000130283","omim":"602880","loci":["19p13.11"]},{"symbol":"MED13L","name":"mediator complex subunit 13L","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Not yet assessed","source":null,"hgnc":"22962","ensembl":"ENSG00000123066","omim":"608771","loci":["12q24.21"]},{"symbol":"ZIC3","name":"Zic family zinc finger 3","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23427188[PMID]","hgnc":"12874","ensembl":"ENSG00000156925","omim":"300265","loci":["Xq26.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}