{"orpha":714,"name":"Hemolytic anemia due to diphosphoglycerate mutase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714/","orphanet_url":"https://www.orpha.net/en/disease/detail/714","names":{"fr":{"name":"Anémie hémolytique par déficit en phosphoglycéromutase"},"de":{"name":"Hämolytische Anämie durch Diphosphoglycerat-Mutase-Mangel"},"es":{"name":"Anemia hemolítica por deficiencia de difosfoglicerato mutasa"},"it":{"name":"Anemia emolitica da deficit di difosfoglicerato mutasi"},"nl":{"name":"Hemolytische anemie door deficiëntie van difosfoglyceraatmutase"},"pt":{"name":"Anemia hemolítica por deficiência de difosfosglicerato mutase"},"pl":{"name":"Niedokrwistość hemolityczna z powodu niedoboru mutazy difosfoglicerynowej"},"cs":{"name":"Hemolytická anémie způsobená deficitem difosfoglycerátmutázy"},"uk":{"name":"Гемолітична анемія внаслідок дефіциту дифосфогліцератмутази"},"zh":{"name":"2，3二磷酸甘油酸变位酶缺乏所致溶血性贫血"},"tr":{"name":"Difosfogliserat mutaz eksikliğine bağlı hemolitik anemi"}},"xrefs":[{"source":"OMIM","code":"222800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D55.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2054819193"},{"source":"MONDO","code":"0009113","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0272069","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1874","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98372,"name":"Hemolytic anemia due to a disorder of glycolytic enzymes","classifications":[156,194]},{"orpha":91088,"name":"Other metabolic disease","classifications":[150,156]}],"children":[],"genes":[{"symbol":"BPGM","name":"bisphosphoglycerate mutase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15054810[PMID]","hgnc":"1093","ensembl":"ENSG00000172331","omim":"613896","loci":["7q33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}