familial erythrocytosis 8

Term ID

DOID:0111630

Synonyms

• bisphosphoglycerate mutase deficiency
• bisphosphoglyceromutase deficiency
• BPGM deficiency
• diphosphoglycerate mutase deficiency of erythrocyte
• DPGM deficiency
• ECYT8
• hemolytic anemia due to diphosphoglycerate mutase deficiency

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/2542247

References

• OMIM:222800
• ORDO:714

Ontology

Human Disease   ( DOID:0111630 )