Human genes for familial erythrocytosis 2
Familial erythrocytosis 2 [DOID:0060474]
A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
Synonyms: familial erythrocytosis 2, DOID:0060474, hereditary erythrocytosis 2, autosomal recessive benign erythrocytosis, Chuvash erythromatosis ...