| Metadata | |
|---|---|
| ID | DOID:0060652 |
| Name | familial erythrocytosis 1 |
| Definition | A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. https://www.ncbi.nlm.nih.gov/pubmed/9292543 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant benign erythrocytosis [EXACT] ECYT1 [EXACT] primary familial and congenital polycythemia [EXACT] |
| Parent Relationships |
is_a primary polycythemia |