| Metadata | |
|---|---|
| ID | DOID:0111630 |
| Name | familial erythrocytosis 8 |
| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
bisphosphoglycerate mutase deficiency [EXACT] bisphosphoglyceromutase deficiency [EXACT] BPGM deficiency [EXACT] diphosphoglycerate mutase deficiency of erythrocyte [EXACT] DPGM deficiency [EXACT] ECYT8 [EXACT] hemolytic anemia due to diphosphoglycerate mutase deficiency [EXACT] |
| Parent Relationships |
is_a primary polycythemia |