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hemolytic anemia due to adenylate kinase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Hemolytic anemia due to adenylate kinase deficiency is a rare hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by moderate to severe chronic nonspherocytic hemolytic anemia that may require regular blood transfusions and/or splenectomy and may be associated with psychomotor impairment.
Uniprot Description A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity.
Mondo Term and Equivalent IDs
MONDO:0012967:  hemolytic anemia due to adenylate kinase deficiency
MESH:C567228: 
Orphanet:86817: 
SCTID:766982000: 
UMLS:C2675459: