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 |