{"orpha":289866,"name":"Disorder of proline metabolism","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-289866/","orphanet_url":"https://www.orpha.net/en/disease/detail/289866","names":{"fr":{"name":"Trouble du métabolisme de la proline"},"de":{"name":"Prolin-Stoffwechselstörung"},"es":{"name":"Trastorno del metabolismo de la prolina"},"it":{"name":"Difetto del metabolismo della prolina"},"nl":{"name":"Stoornis van prolinemetabolisme"},"pt":{"name":"Doença do metabolismo da prolina"},"pl":{"name":"Zaburzenie metabolizmu proliny"},"cs":{"name":"Porucha metabolismu prolinu"},"uk":{"name":"Порушення обміну проліну"},"zh":{"name":"脯氨酸代谢紊乱"},"tr":{"name":"Prolin metabolizması bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C50.8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1707028291"},{"source":"MONDO","code":"0017355","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17355","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681004","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79185,"name":"Disorder of ornithine or proline metabolism","classifications":[150,156]}],"children":[{"orpha":90350,"name":"Autosomal recessive cutis laxa type 2","type":"Clinical group"},{"orpha":2962,"name":"De Barsy syndrome","type":"Disease"},{"orpha":419,"name":"Hyperprolinemia type 1","type":"Disease"},{"orpha":79101,"name":"Hyperprolinemia type 2","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}