Term Name: familial erythrocytosis 4
Synonyms: ECYT4
Definition: A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.
Ontology: Human Disease [DOID:0080339]   ( DOID:0080339 )

Relationships
is a type of: primary polycythemia