{"orpha":308442,"name":"Vitamin B12-responsive methylmalonic acidemia, type cblDv2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Vitamin B12-responsive methylmalonic aciduria, type cblDv2"],"definition":null,"note":"This disease is described under Vitamin B12-responsive methylmalonic acidemia","url":"https://raremap.alftech.space/d/ORPHA-308442/","orphanet_url":"https://www.orpha.net/en/disease/detail/308442","names":{"fr":{"name":"Acidémie méthylmalonique sensible à la vitamine B12 type cblDv2","synonyms":["Acidurie méthylmalonique sensible à la vitamine B12 type cblDv2"]},"de":{"name":"Methylmalonazidämie, Vitamin B12-sensible, Typ cblDv2","synonyms":["Methylmalonazidurie, Vitamin B12-abhängige, Typ cblDv2"]},"es":{"name":"Acidemia metilmalónica sensible a la vitamina B12 tipo clbDv2","synonyms":["Aciduria metilmalónica sensible a la vitamina B12 tipo clbDv2"]},"it":{"name":"Acidemia metilmalonica sensibile alla vitamina B12, tipo cblDv2","synonyms":["Aciduria metilmalonica refrattaria alla vitamina B12, tipo cblDv2"]},"nl":{"name":"Vitamine B12-responsieve methylmalonacidemie, type cblDv2","synonyms":["Vitamine B12-responsieve methylmalonacidurie, type cblDv2","Vitamine B12-responsieve methylmalonzuuracidemie, type cblDv2","Vitamine B12-responsieve methylmalonzuuracidurie, type cblDv2"]},"pt":{"name":"Acidemia metilmalónica sensível à vitamina B12, tipo cblDv2"},"pl":{"name":"Kwasica metylomalonowa wrażliwa na witaminę B12, typu cblDv2","synonyms":["Acyduria metylomalonowa wrażliwa na witaminę B12, typu cblDv2"]},"cs":{"name":"Methylmalonová acidémie reagující na vitamin B12, typ cblDv2","synonyms":["Methylmalonová acidurie reagující na vitamin B12, typ cblDv2"]},"uk":{"name":"Метилмалонова ацидемія, чутлива до вітаміну В12, тип cblDv2","synonyms":["Метилмалонова ацидурія, що реагує на вітамін В12, тип cblDv2"]},"zh":{"name":"维生素B12敏感甲基丙二酸血症cblDv2型","synonyms":["维生素B12敏感甲基丙二酸尿症cblDv2型"]},"tr":{"name":"B12 vitaminine duyarlı metilmalonik asidemi, tip cblDv2","synonyms":["Vitamin B12'ye duyarlı metilmalonik asidüri, tip cblDv2"]}},"xrefs":[{"source":"OMIM","code":"277410","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017685","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679970","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":28,"name":"Vitamin B12-responsive methylmalonic acidemia","classifications":[150,156,188,233]}],"children":[],"genes":[{"symbol":"MMADHC","name":"metabolism of cobalamin associated D","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"25221","ensembl":"ENSG00000168288","omim":"611935","loci":["2q23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}