{"orpha":308448,"name":"Aminoacylase 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-308448/","orphanet_url":"https://www.orpha.net/en/disease/detail/308448","names":{"fr":{"name":"Déficit en aminoacylase"},"de":{"name":"Aminoacylase-Mangel"},"es":{"name":"Deficiencia de aminoacilasa"},"it":{"name":"Deficit di aminoacilasi"},"nl":{"name":"Aminoacylasedeficiëntie"},"pt":{"name":"Défice de aminoacilase"},"pl":{"name":"Niedobór aminoacylazy"},"cs":{"name":"Deficit aminoacylázy"},"uk":{"name":"Дефіцит аміноацилази"},"zh":{"name":"氨基酰化酶缺乏症"},"tr":{"name":"Aminoasilaz eksikliği"}},"xrefs":[{"source":"MONDO","code":"0017686","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17686","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681074","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79158,"name":"Cerebral organic aciduria","classifications":[150,156]}],"children":[{"orpha":137754,"name":"Aminoacylase 1 deficiency","type":"Disease"},{"orpha":141,"name":"Canavan disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}