| Metadata | |
|---|---|
| ID | DOID:0060474 |
| Name | familial erythrocytosis 2 |
| Definition | A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. https://www.ncbi.nlm.nih.gov/pubmed/15725900 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive benign erythrocytosis [EXACT] Chuvash erythromatosis [EXACT] Chuvash polycythemia [EXACT] Chuvash type polycythemia [EXACT] ECYT2 [EXACT] |
| Parent Relationships |
is_a primary polycythemia |