| Metadata | |
|---|---|
| ID | DOID:0080290 |
| Name | familial erythrocytosis 5 |
| Definition | A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. https://www.ncbi.nlm.nih.gov/pubmed/29514032 |
| Xrefs | |
| Synonyms |
ECYT5 [EXACT] |
| Parent Relationships |
is_a primary polycythemia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |