Term Name: | familial erythrocytosis 7 |
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Synonyms: | alpha-globin type erythrocytosis, alpha-globin type polycythemia, ECYT7 |
Definition: | A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. |
Ontology: | Human Disease [DOID:0111631] ( DOID:0111631 ) |