{"orpha":79186,"name":"Disorder of pentose phosphate 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-79186/","orphanet_url":"https://www.orpha.net/en/disease/detail/79186","names":{"fr":{"name":"Trouble du métabolisme des pentoses-phosphates"},"de":{"name":"Pentosephosphat-Stoffwechselstörung"},"es":{"name":"Trastornos del metabolismo de la pentosa fosfato"},"it":{"name":"Difetto del metabolismo del pentoso fosfato"},"nl":{"name":"Stoornis van pentosefosfaatmetabolisme"},"pt":{"name":"Doença do metabolismo das pentoses"},"pl":{"name":"Zaburzenie metabolizmu fosforanu pentozy"},"cs":{"name":"Poruchy metabolismu pentózafostátu"},"uk":{"name":"Порушення метаболізму пентозофосфату"},"zh":{"name":"磷酸戊糖代谢异常"},"tr":{"name":"Pentoz fosfat metabolizması bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C51.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2067324607"},{"source":"MONDO","code":"0019231","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19231","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681279","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":440701,"name":"Disorders of pentose/polyol metabolism","classifications":[150,156]}],"children":[{"orpha":440713,"name":"Isolated sedoheptulokinase deficiency","type":"Disease"},{"orpha":440706,"name":"Ribose-5-P isomerase deficiency","type":"Disease"},{"orpha":101028,"name":"Transaldolase deficiency","type":"Disease"},{"orpha":488618,"name":"Transketolase deficiency","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}