{"orpha":98369,"name":"Rare constitutional hemolytic anemia due to an enzyme disorder","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-98369/","orphanet_url":"https://www.orpha.net/en/disease/detail/98369","names":{"fr":{"name":"Anémie hémolytique constitutionnelle rare par anomalie enzymatique"},"de":{"name":"Seltene konstitutionelle hämolytische Anämie infolge einer Enzymstörung"},"es":{"name":"Anemia hemolítica constitucional rara por una anomalía enzimática"},"it":{"name":"Anemia emolitica costituzionale rara da deficit enzimatico"},"nl":{"name":"Zeldzame constitutionele hemolytische anemie als gevolg van een enzymstoornis"},"pt":{"name":"Anemia hemolítica genética por deficiência enzimática"},"pl":{"name":"Rzadka niedokrwistość hemolityczna konstytucjonalna z powodu zaburzeń enzymatycznych"},"cs":{"name":"Vzácná konstituční hemolytická anémie způsobená poruchou enzymu"},"uk":{"name":"Рідкісна конституціональна гемолітична анемія внаслідок ферментного розладу"},"zh":{"name":"酶异常所致罕见原发性溶血性贫血"},"tr":{"name":"Enzim bozukluğuna bağlı nadir yapısal hemolitik anemi"}},"xrefs":[{"source":"UMLS","code":"C5681715","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1044,"name":"OBSOLETE: Anemia due to adenosine triphosphatase deficiency","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":182043,"name":"Rare constitutional hemolytic anemia","classifications":[156,194]}],"children":[{"orpha":79278,"name":"Autosomal erythropoietic protoporphyria","type":"Disease"},{"orpha":79277,"name":"Congenital erythropoietic porphyria","type":"Disease"},{"orpha":659672,"name":"Harderoporphyria","type":"Disease"},{"orpha":98372,"name":"Hemolytic anemia due to a disorder of glycolytic enzymes","type":"Category"},{"orpha":98374,"name":"Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder","type":"Category"},{"orpha":98370,"name":"Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}