{"orpha":79171,"name":"Disorder of cobalamin metabolism and transport","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-79171/","orphanet_url":"https://www.orpha.net/en/disease/detail/79171","names":{"fr":{"name":"Anomalie de transport et du métabolisme de la cobalamine"},"de":{"name":"Cobalamin-Stoffwechsel- und Transport-Störung"},"es":{"name":"Trastornos del metabolismo y transporte de la cobalamina"},"it":{"name":"Difetto del metabolismo e del trasporto della cobalamina"},"nl":{"name":"Stoornis van cobalaminemetabolisme en -transport"},"pt":{"name":"Doença do metabolismo da cobalamina"},"pl":{"name":"Zaburzenie metabolizmu i transportu kobalaminy"},"cs":{"name":"Poruchy metabolismu a transportu kobalaminu"},"uk":{"name":"Порушення метаболізму та транспорту кобаламіну"},"zh":{"name":"钴胺素代谢和转运异常"},"tr":{"name":"Kobalamin metabolizması ve taşınmasında bozukluk"}},"xrefs":[{"source":"ICD-11","code":"5C63.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"936546617"},{"source":"MONDO","code":"0019220","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19220","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681844","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309827,"name":"Disorder of vitamin and non-protein cofactor absorption and transport","classifications":[150,156]}],"children":[{"orpha":332,"name":"Congenital intrinsic factor deficiency","type":"Disease"},{"orpha":2967,"name":"Haptocorrin deficiency","type":"Disease"},{"orpha":622,"name":"Homocystinuria without methylmalonic aciduria","type":"Disease"},{"orpha":35858,"name":"Imerslund-Gräsbeck syndrome","type":"Disease"},{"orpha":26,"name":"Methylmalonic acidemia with homocystinuria","type":"Disease"},{"orpha":280183,"name":"Methylmalonic aciduria due to transcobalamin receptor defect","type":"Biological anomaly"},{"orpha":859,"name":"Transcobalamin II deficiency","type":"Disease"},{"orpha":28,"name":"Vitamin B12-responsive methylmalonic acidemia","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}