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familial erythrocytosis 8
Summary
- Synonym
-
- BPGM deficiency
- DPGM deficiency
- ECYT8
- bisphosphoglycerate mutase deficiency
- bisphosphoglyceromutase deficiency
- diphosphoglycerate mutase deficiency of erythrocyte
- 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.
- Super Class
- primary polycythemia
External Links
- Disease Ontology
- DOID:0111630
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001900 | Increased circulating hemoglobin concentration |
| HP:0001744 | Splenomegaly |
| HP:0003581 | Adult onset |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001901 | Polycythemia |
| HP:0001899 | Increased hematocrit |
