{"orpha":371183,"name":"Congenital disorder of glycosylation with cardiac malformation as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CDG with cardiac malformation as a major feature"],"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-371183/","orphanet_url":"https://www.orpha.net/en/disease/detail/371183","names":{"fr":{"name":"Anomalie congénitale de la glycosylation avec une malformation cardiaque comme manifestation majeure","synonyms":["CDG avec une malformation cardiaque comme manifestation majeure"]},"de":{"name":"Kongenitale Glykosylierungsstörung mit Fehlbildung des Herzens als Hauptmerkmal","synonyms":["CDG mit Herzfehlbildung als Hauptmerkmal"]},"es":{"name":"Trastorno congénito de la glicosilación con malformación cardíaca como característica principal","synonyms":["CDG con malformación cardíaca como característica principal"]},"it":{"name":"Disturbo congenito della glicosilazione con malformazione cardiaca come segno cardinale","synonyms":["CDG con malformazione cardiaca come segno cardinale"]},"nl":{"name":"Congenitale glycosylatiestoornis met hartafwijking als hoofdkenmerk","synonyms":["CDG met hartafwijking als hoofdkenmerk"]},"pt":{"name":"Doença congénita de glicosilação com malformação cardíaca como característica principal"},"pl":{"name":"Wrodzone zaburzenie glikozylacji z wadą serca jako objawem głównym","synonyms":["CDG z wadą serca jako objawem głównym"]},"cs":{"name":"Vrozená porucha glykosylace se srdeční malformací jako hlavním příznakem","synonyms":["CDG se srdeční malformací jako hlavním příznakem"]},"uk":{"name":"Вроджене порушення глікозилювання з серцевою вадою як основною ознакою","synonyms":["CDG з серцевими вадами як основною ознакою"]},"zh":{"name":"以心脏畸形为主要特征的先天性糖基化障碍","synonyms":["以心脏畸形为主要特征的CDG"]},"tr":{"name":"Esas klinik özelliği kardiyak malformasyon olan doğumsal glikozilasyon bozukluğu","synonyms":["Esas klinik özelliği kardiyak malformasyon olan CDG"]}},"xrefs":[{"source":"MONDO","code":"18290","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679906","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":371235,"name":"Congenital disorder of glycosylation with developmental anomaly","classifications":[147,156]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[{"orpha":3474,"name":"CHIME syndrome","type":"Malformation syndrome"},{"orpha":79333,"name":"COG7-CDG","type":"Disease"},{"orpha":284139,"name":"Larsen-like syndrome, B3GAT3 type","type":"Malformation syndrome"},{"orpha":79329,"name":"MGAT2-CDG","type":"Disease"},{"orpha":2953,"name":"Musculocontractural Ehlers-Danlos syndrome","type":"Disease"},{"orpha":709,"name":"Peters plus syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}