{"orpha":371188,"name":"Congenital disorder of glycosylation with intestinal involvement","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CDG with intestinal involvement"],"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-371188/","orphanet_url":"https://www.orpha.net/en/disease/detail/371188","names":{"fr":{"name":"Anomalie congénitale de la glycosylation avec atteinte intestinale","synonyms":["CDG avec atteinte intestinale"]},"de":{"name":"Kongenitale Glykosylierungsstörung mit intestinaler Beteiligung","synonyms":["CDG mit Darmbeteiligung"]},"es":{"name":"Trastorno congénito de la glicosilación con afectación intestinal","synonyms":["CDG con afectación intestinal"]},"it":{"name":"Disturbo congenito della glicosilazione con coinvolgimento intestinale","synonyms":["CDG con coinvolgimento intestinale"]},"nl":{"name":"Congenitale glycosylatiestoornis met intestinale betrokkenheid","synonyms":["CDG met intestinale betrokkenheid"]},"pt":{"name":"Doença congénita de glicosilação com envolvimento intestinal"},"pl":{"name":"Wrodzone zaburzenie glikozylacji z udziałem jelit","synonyms":["CDG z udziałem jelit"]},"cs":{"name":"Vrozená porucha glykosylace s postižením střeva","synonyms":["CDG s postižením střeva"]},"uk":{"name":"Вроджене порушення глікозилювання з ураженням кишечника","synonyms":["CDG із залученням кишківника"]},"zh":{"name":"先天性糖基化障碍伴肠受累","synonyms":["CDG伴小肠受累"]},"tr":{"name":"Bağırsak tutulumu ile seyreden doğumsal glikozilasyon bozukluğu","synonyms":["Bağırsak tutulumu ile seyreden CDG"]}},"xrefs":[{"source":"MONDO","code":"18291","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679909","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":104013,"name":"Metabolic disease with intestinal involvement","classifications":[152,156]}],"children":[{"orpha":79320,"name":"ALG6-CDG","type":"Disease"},{"orpha":79325,"name":"ALG8-CDG","type":"Disease"},{"orpha":79319,"name":"MPI-CDG","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}