Metadata | |
---|---|
ID | DOID:0080339 |
Name | familial erythrocytosis 4 |
Definition | A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. https://www.ncbi.nlm.nih.gov/pubmed/18184961 |
Xrefs | |
Synonyms |
ECYT4 [EXACT] |
Parent Relationships |
is_a primary polycythemia |