Familial Erythrocytosis 8
Disease ID: disease_node_15330
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| Dbxref | MIM:222800, ORDO:714 |
|---|---|
| Subclassof | DOID_10780 |
| Data Source | DOID |
| Synonyms | BPGM deficiency, DPGM deficiency, ECYT8, bisphosphoglycerate mutase deficiency, bisphosphoglyceromutase deficiency, diphosphoglycerate mutase deficiency of erythrocyte, hemolytic anemia due to diphosphoglycerate mutase deficiency |
| Doid Label | familial erythrocytosis 8 |
| Doid Description | 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. |
| Disease Node Id | disease_node_15330 |
| Doid Id | DOID_0111630 |
| Label | Familial Erythrocytosis 8 |
- Outgoing r'ship
SUBCLASS_OFto/from Primary Polycythemia(ID:disease_node_15327) (Disease)