RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. (DO)
Synonyms:
exact_synonym:
PK Deficiency; Pyruvate Kinase Deficiency; Pyruvate Kinase Deficiency of Erythrocyte; hemolytic anemia due to red cell pyruvate kinase deficiency
ClinVar Annotator: match by term: Pyruvate kinase deficiency of red cells ClinVar Annotator: match by OMIM:266200 human gene complementing mouse knockout associated with Anemia, Hemolytic;DNA:mutations:multiple (human) DNA:missense mutation:cds:p.G338D (mouse)