{"orpha":576235,"name":"Partial atrioventricular septal defect without ventricular hypoplasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Balanced partial atrioventricular canal","PAVC without ventricular hypoplasia","Partial AVSD without ventricular hypoplasia","Partial atrioventricular canal defect without ventricular hypoplasia","Partial atrioventricular septal defect with balanced ventricles"],"definition":null,"note":"This disease is described under Partial atrioventricular septal defect","url":"https://raremap.alftech.space/d/ORPHA-576235/","orphanet_url":"https://www.orpha.net/en/disease/detail/576235","names":{"fr":{"name":"Canal atrioventriculaire partiel sans hypoplasie ventriculaire","synonyms":["PAVC sans hypoplasie ventriculaire","CAV partiel sans hypoplasie ventriculaire","Communication atrioventriculaire partielle sans hypoplasie ventriculaire","Communication atrioventriculaire partielle équilibrée","Communication auriculo-ventriculaire partielle sans hypoplasie ventriculaire","Communication auriculo-ventriculaire partielle équilibrée","Défaut septal atrioventriculaire partiel sans hypoplasie ventriculaire","Défaut septal atrioventriculaire partiel équilibré","Défaut septal auriculo-ventriculaire partiel sans hypoplasie ventriculaire"]},"de":{"name":"Partieller atrioventrikulärer Septumdefekt ohne ventrikuläre Hypoplasie"},"es":{"name":"Comunicación auriculoventricular parcial sin hipoplasia ventricular","synonyms":["Defecto septal auriculoventricular parcial sin hipoplasia ventricular"]},"it":{"name":"Difetto parziale del setto atrioventricolare senza ipoplasia ventricolare","synonyms":["AVSD parziale senza ipoplasia ventricolare","Canale atrioventricolare parziale bilanciato","Canale atrioventricolare parziale senza ipoplasia ventricolare","Difetto parziale del setto atrioventricolare con ventricoli bilanciati","PAVC senza ipoplasia ventricolare"]},"nl":{"name":"Partieel atrioventriculair septumdefect zonder ventrikelhypoplasie"},"pt":{"name":"Defeito septal auriculoventricular parcial sem hipoplasia ventricular"},"pl":{"name":"Częściowy ubytek przegrody przedsionkowo-komorowej bez hipoplazji komór","synonyms":["Częściowy AVSD bez hipoplazji komór"]},"cs":{"name":"Částečný atrioventrikulární septální defekt bez ventrikulární hypoplázie","synonyms":["Balanced partial atrioventricular canal","PAVC without ventricular hypoplasia","Partial AVSD without ventricular hypoplasia","Partial atrioventricular canal defect without ventricular hypoplasia","Partial atrioventricular septal defect with balanced ventricles"]},"uk":{"name":"Часткова атріовентрикулярна комунікація без гіпоплазії шлуночків","synonyms":["Збалансований частковий атріовентрикулярний канал","Частковий дефект атріовентрикулярного каналу без гіпоплазії шлуночків","Частковий дефект атріовентрикулярної перегородки зі збалансованими шлуночками","Частковий AVSD без гіпоплазії шлуночків","PAVC без гіпоплазії шлуночків"]},"zh":{"name":"部分房室间隔缺损伴无心室发育不良","synonyms":["部分房型室间隔缺损伴无心室发育不良"]},"tr":{"name":"Ventriküler hipoplazisiz kısmi atriyoventriküler septal defekt","synonyms":["Dengeli ventriküller ile seyreden kısmi atriyoventriküler septal defekt","Ventriküler hipoplazi ile seyreden kısmi atriyoventriküler kanal defekti","Ventriküler hipoplazi ile seyreden PAVC","Dengeli kısmi atriyoventriküler kanal","Ventriküler hipoplazisiz ile seyreden kısmi AVSD"]}},"xrefs":[{"source":"ICD-10","code":"Q21.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5680352","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1330,"name":"Partial atrioventricular septal defect","classifications":[147,148,156]}],"children":[],"genes":[{"symbol":"CRELD1","name":"CRELD disulfide isomerase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12632326[PMID]_15096951[PMID]_21080147[PMID]","hgnc":"14630","ensembl":"ENSG00000163703","omim":"607170","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}