Term Name: | familial erythrocytosis 6 |
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Synonyms: | beta-globin type erythrocytosis, beta-globin type polycythemia, ECYT6 |
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. |
Ontology: | Human Disease [DOID:0111632] ( DOID:0111632 ) |