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
Ontology
Human Disease   ( DOID:0111077 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models