{"orpha":371212,"name":"Congenital disorder of glycosylation with deafness as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CDG with deafness as a major feature","CDG with hearing loss as a major feature","Congenital disorder of glycosylation with hearing loss 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-371212/","orphanet_url":"https://www.orpha.net/en/disease/detail/371212","names":{"fr":{"name":"Anomalie congénitale de la glycosylation avec surdité comme manifestation majeure","synonyms":["CDG avec surdité comme manifestation majeure"]},"de":{"name":"Kongenitale Glykosylierungsstörung mit Schwerhörigkeit als Hauptmerkmal","synonyms":["CDG mit Schwerhörigkeit als Hauptmerkmal"]},"es":{"name":"Trastorno congénito de la glicosilación con sordera como característica principal","synonyms":["CDG con hipoacusia como característica principal","CDG con sordera como característica principal","Trastorno congénito de la glicosilación con hipoacusia como característica principal"]},"it":{"name":"Disturbo congenito della glicosilazione con sordità come segno cardinale","synonyms":["CDG con sordità come segno cardinale"]},"nl":{"name":"Congenitale glycosylatiestoornis met doofheid als hoofdkenmerk","synonyms":["CDG met doofheid als hoofdkenmerk"]},"pt":{"name":"Doença congénita de glicosilação com surdez como característica principal"},"pl":{"name":"Wrodzone zaburzenie glikozylacji z głuchotą jako głównym objawem","synonyms":["CDG z głuchotą jako głównym objawem"]},"cs":{"name":"Vrozená porucha glykosylace s hluchotou jako hlavním příznakem","synonyms":["CDG s hluchotou jako hlavním příznakem"]},"uk":{"name":"Вроджене порушення глікозилювання з глухотою як основною ознакою","synonyms":["CDG з глухотою як головною особливістю","CDG з втратою слуху як основною особливістю","Вроджене порушення глікозилювання з втратою слуху як основною ознакою"]},"zh":{"name":"以耳聋为主要特征的先天性糖基化障碍","synonyms":["以听力损失为主要特征的先天性糖基化障碍"]},"tr":{"name":"Esas klinik özelliği sağırlık olan doğumsal glikozilasyon bozukluğu","synonyms":["Esas klinik özelliği sağırlık olan CDG","Esas klinik özelliği işitme kaybı olan CDG","Esas klinik özelliği işitme kaybı olan doğumsal glikozilasyon bozukluğu"]}},"xrefs":[{"source":"MONDO","code":"18295","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680021","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":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[{"orpha":3474,"name":"CHIME syndrome","type":"Malformation syndrome"},{"orpha":244310,"name":"RFT1-CDG","type":"Disease"},{"orpha":363417,"name":"Temtamy preaxial brachydactyly syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}