Term Name: familial erythrocytosis 5
Synonyms: ECYT5
Definition: A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21.
Ontology: Human Disease [DOID:0080290]   ( DOID:0080290 )

Relationships
is a type of: autosomal dominant disease primary polycythemia