| Metadata | |
|---|---|
| ID | DOID:0111631 |
| Name | familial erythrocytosis 7 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/10676771, https://www.ncbi.nlm.nih.gov/pubmed/5913291 |
| Xrefs | |
| Synonyms |
alpha-globin type erythrocytosis [EXACT] alpha-globin type polycythemia [EXACT] ECYT7 [EXACT] |
| Parent Relationships |
is_a primary polycythemia |