{"orpha":309127,"name":"3-hydroxyacyl-CoA dehydrogenase deficiency","type":"Clinical group","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-309127/","orphanet_url":"https://www.orpha.net/en/disease/detail/309127","names":{"fr":{"name":"Déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras"},"de":{"name":"3-Hydroxyacyl-CoA-Dehydrogenase-Mangel"},"es":{"name":"Deficiencia de 3-hidroxiacil CoA deshidrogenasa"},"it":{"name":"Deficit di 3-idrossiacil-CoA deidrogenasi"},"nl":{"name":"3-hydroxyacyl-CoA-dehydrogenasedeficiëntie"},"pt":{"name":"Défice de 3-hidroxiacil-CoA desidrogenase"},"pl":{"name":"Niedobór dehydrogenazy 3 hydroksyacylo-CoA"},"cs":{"name":"Deficit 3-hydroxyacyl-CoA-dehydrogenázy"},"uk":{"name":"Дефіцит 3-гідроксиацил-КоА-дегідрогенази"},"zh":{"name":"3-羟基酰基-CoA脱氢酶缺乏症"},"tr":{"name":"3-hidroksiasil-CoA dehidrojenaz eksikliği"}},"xrefs":[{"source":"MONDO","code":"0017715","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17715","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535310","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1291230","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309115,"name":"Disorder of fatty acid oxidation and ketogenesis","classifications":[150,156]}],"children":[{"orpha":71212,"name":"Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency","type":"Disease"},{"orpha":5,"name":"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}