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hemolytic anemia due to diphosphoglycerate mutase deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A rare, autosomal recessive, inherited disorder caused by mutation of the BPGM gene. It is characterized by hemolytic anemia and splenomegaly.
Uniprot Description A disease characterized by hemolytic anemia, splenomegaly, cholelithiasis and cholecystitis.
Mondo Term and Equivalent IDs
MONDO:0009113:  hemolytic anemia due to diphosphoglycerate mutase deficiency
DOID:0111630: 
GARD:0001874: 
NCIT:C131638: 
Orphanet:714: 
UMLS:C1291620: