{"orpha":371200,"name":"Congenital disorder of glycosylation with skin involvement","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["CDG with skin 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-371200/","orphanet_url":"https://www.orpha.net/en/disease/detail/371200","names":{"fr":{"name":"Anomalie congénitale de la glycosylation avec atteinte cutanée","synonyms":["CDG avec atteinte cutanée"]},"de":{"name":"Kongenitale Glykosylierungsstörung mit Hautbeteiligung","synonyms":["CDG mit Hautbeteiligung"]},"es":{"name":"Trastorno congénito de la glicosilación con afectación cutánea","synonyms":["CDG con afectación cutánea"]},"it":{"name":"Disturbo congenito della glicosilazione con coinvolgimento cutaneo","synonyms":["CDG coin coinvolgimento cutaneo"]},"nl":{"name":"Congenitale glycosylatiestoornis met betrokkenheid van huid","synonyms":["CDG met betrokkenheid van huid"]},"pt":{"name":"Doença congénita de glicosilação com envolvimento da pele"},"pl":{"name":"Wrodzone zaburzenie glikozylacji z udziałem skóry","synonyms":["CDG z udziałem skóry"]},"cs":{"name":"Vrozená porucha glykosylace s postižením kůže","synonyms":["CDG s postižením kůže"]},"uk":{"name":"Вроджене порушення глікозилювання з ураженням шкіри","synonyms":["CDG з ураженням шкіри"]},"zh":{"name":"先天性糖基化障碍伴皮肤受累","synonyms":["CDG伴皮肤受累"]},"tr":{"name":"Deri tutulumu ile seyreden doğumsal glikozilasyon bozukluğu","synonyms":["Deri tutulumu ile seyreden CDG"]}},"xrefs":[{"source":"MONDO","code":"18293","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680020","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79387,"name":"Metabolic disease with skin involvement","classifications":[156,187]}],"children":[{"orpha":692790,"name":"ATP6AP1-CDG","type":"Disease"},{"orpha":357058,"name":"Autosomal recessive cutis laxa type 2A","type":"Disease"},{"orpha":3474,"name":"CHIME syndrome","type":"Malformation syndrome"},{"orpha":79333,"name":"COG7-CDG","type":"Disease"},{"orpha":91131,"name":"DK1-CDG","type":"Disease"},{"orpha":79145,"name":"Dowling-Degos disease","type":"Disease"},{"orpha":306661,"name":"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome","type":"Clinical subtype"},{"orpha":370933,"name":"GM3 synthase deficiency","type":"Disease"},{"orpha":79323,"name":"MPDU1-CDG","type":"Disease"},{"orpha":2953,"name":"Musculocontractural Ehlers-Danlos syndrome","type":"Disease"},{"orpha":79318,"name":"PMM2-CDG","type":"Disease"},{"orpha":324737,"name":"SRD5A3-CDG","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}