| Metadata | |
|---|---|
| ID | DOID:0111632 |
| Name | familial erythrocytosis 6 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/10676771, https://www.ncbi.nlm.nih.gov/pubmed/17795074 |
| Xrefs | |
| Synonyms |
beta-globin type erythrocytosis [EXACT] beta-globin type polycythemia [EXACT] ECYT6 [EXACT] |
| Parent Relationships |
is_a primary polycythemia |