{"orpha":371207,"name":"Congenital disorder of glycosylation with nephropathy as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CDG with nephropathy 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-371207/","orphanet_url":"https://www.orpha.net/en/disease/detail/371207","names":{"fr":{"name":"Anomalie congénitale de la glycosylation avec une néphropathie comme manifestation majeure","synonyms":["CDG avec une néphropathie comme manifestation majeure"]},"de":{"name":"Kongenitale Glykosylierungsstörung mit Nephropathie als Hauptmerkmal","synonyms":["CDG mit Nephropathie als Hauptmerkmal"]},"es":{"name":"Trastorno congénito de la glicosilación con nefropatía como característica principal","synonyms":["CDG con nefropatía como característica principal"]},"it":{"name":"Disturbo congenito della glicosilazione con nefropatia come segno cardinale","synonyms":["CDG con nefropatia come segno cardinale"]},"nl":{"name":"Congenitale glycosylatiestoornis met nefropathie als hoofdkenmerk","synonyms":["CDG met nefropathie als hoofdkenmerk"]},"pt":{"name":"Doença congénita de glicosilação com nefropatia como característica principal"},"pl":{"name":"Wrodzone zaburzenie glikozylacji z nefropatią jako objawem głównym","synonyms":["CDG z nefropatią jako objawem głównym"]},"cs":{"name":"Vrozená porucha glykosylace s nefropatií jako hlavním příznakem","synonyms":["CDG s nefropatií jako hlavním příznakem"]},"uk":{"name":"Вроджене порушення глікозилювання з нефропатією як основною ознакою","synonyms":["CDG з нефропатією як основною ознакою"]},"zh":{"name":"以肾病为主要特征的先天性糖基化障碍","synonyms":["以肾病为主要特征的CDG"]},"tr":{"name":"Esas klinik özelliği nefropati olan doğumsal glikozilasyon bozukluğu","synonyms":["Esas klinik özelliği nefropati olan CDG"]}},"xrefs":[{"source":"MONDO","code":"18294","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680019","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":93593,"name":"Nephropathy secondary to a storage or other metabolic disease","classifications":[156,188]}],"children":[{"orpha":79325,"name":"ALG8-CDG","type":"Disease"},{"orpha":2953,"name":"Musculocontractural Ehlers-Danlos syndrome","type":"Disease"},{"orpha":238459,"name":"SLC35A1-CDG","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}