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 primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. (DO)
Synonyms:
exact_synonym:
BISPHOSPHOGLYCEROMUTASE DEFICIENCY; BPGM DEFICIENCY; Bisphosphoglycerate Mutase Deficiency; DPGM deficiency; ECYT8; diphosphoglycerate mutase deficiency of erythrocyte; hemolytic anemia due to diphosphoglycerate mutase deficiency
DNA:point mutation, deletion: :p.R89C (human) ClinVar Annotator: match by term: Diphosphoglycerate mutase deficiency of erythrocyte | ClinVar Annotator: match by term: Hemolytic anemia due to diphosphoglycerate mutase deficiency