Search Ontology:
Human Disease
pyruvate kinase deficiency of red cells
- Term ID
- DOID:0111077
- Synonyms
-
- hemolytic anemia due to red cell pyruvate kinase deficiency
- PK deficiency
- pyruvate kinase deficiency of erythrocyte
- Definition
- A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. (3)
- References
-
- GARD:7514
- MESH:C564858
- MIM:266200
- ORDO:766
- Ontology
- Human Disease ( DOID:0111077 )
- is a type of
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