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familial erythrocytosis 6
Summary
- Synonym
-
- ECYT6
- beta-globin type erythrocytosis
- beta-globin type polycythemia
- Definition
- A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4.
- Super Class
- primary polycythemia
External Links
- Disease Ontology
- DOID:0111632
- Mondo Disease Ontology
- OMIM
