{"orpha":79311,"name":"Vitamin B12-responsive methylmalonic acidemia type cblB","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Vitamin B12-responsive methylmalonic aciduria, type cblB"],"definition":null,"note":"This disease is described under Vitamin B12-responsive methylmalonic acidemia","url":"https://raremap.alftech.space/d/ORPHA-79311/","orphanet_url":"https://www.orpha.net/en/disease/detail/79311","names":{"fr":{"name":"Acidémie méthylmalonique sensible à la vitamine B12 type cblB","synonyms":["Acidurie méthylmalonique sensible à la vitamine B12 type cblB"]},"de":{"name":"Methylmalonazidämie, Vitamin-B12-sensible, Typ cblB","synonyms":["Methylmalonazidurie, Vitamin-B12-abhängige, Typ cblB"]},"es":{"name":"Acidemia metilmalónica sensible a la vitamina B12 tipo cblB","synonyms":["Aciduria metilmalónica sensible a la vitamina B12 tipo cblB"]},"it":{"name":"Acidemia metilmalonica sensibile alla vitamina B12, tipo cblB","synonyms":["Aciduria metilmalonica sensibile alla vitamina B12, tipo cblB"]},"nl":{"name":"Vitamine B12-responsieve methylmalonacidemie type cblB","synonyms":["Vitamine B12-responsieve methylmalonacidurie type cblB","Vitamine B12-responsieve methylmalonzuuracidemie type cblB","Vitamine B12-responsieve methylmalonzuuracidurie type cblB"]},"pt":{"name":"Acidemia metilmalónica sensível à vitamina B12 tipo cbl B"},"pl":{"name":"Kwasica metylomalonowa reagująca na witaminę B12 typu cblB","synonyms":["Acyduria metylomalonowa reagująca na witaminę B12 typu cblB"]},"cs":{"name":"Methylmalonová acidémie responsivní na vitamin B12, typ cbIB","synonyms":["Methylmalonová acidurie responsivní na vitamin B12, typ cbIB"]},"uk":{"name":"Метилмалонова ацидемія тип cblB, чутлива до вітаміну В12","synonyms":["Метилмалонова ацидурія, що реагує на вітамін В12, тип cblB"]},"zh":{"name":"维生素B12反应性甲基丙二酸血症cbIB型","synonyms":["维生素B12-反应性甲基丙二酸尿症，cbIB型"]},"tr":{"name":"B12 vitaminine duyarlı metilmalonik asidemi tip cblB","synonyms":["B12 vitaminine duyarlı metilmalonik asidüri, tip cblB"]}},"xrefs":[{"source":"OMIM","code":"251110","qualifier":"E","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":"index","validated":true,"icd11_uri":"1930335115"},{"source":"MONDO","code":"0009614","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537361","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855102","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":"MMAB","name":"metabolism of cobalamin associated B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"19331","ensembl":"ENSG00000139428","omim":"607568","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[],"phenotypes":null}