Term Name: familial erythrocytosis 2
Synonyms: autosomal recessive benign erythrocytosis, Chuvash erythromatosis, Chuvash polycythemia, Chuvash type polycythemia, ECYT2
Definition: A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
Ontology: Human Disease [DOID:0060474]   ( DOID:0060474 )

Relationships
is a type of: autosomal recessive disease primary polycythemia