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G6PD deficiency

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.
Disease Ontology Description A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).
Mondo Term and Equivalent IDs
MONDO:0005775:  G6PD deficiency
EFO:0007287: 
MESH:D005955: 
NCIT:C98933: 
SCTID:62403005: 
UMLS:C2939465: