Term Name: | familial erythrocytosis 8 |
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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. |
Ontology: | Human Disease [DOID:0111630] ( DOID:0111630 ) |