OBO ID: DOID:0111077
Term Name: pyruvate kinase deficiency of red cells Search Ontology:
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)
OTHER pyruvate kinase deficiency of red cells PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PKLR Pyruvate kinase deficiency 266200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None