Term Name: | familial erythrocytosis 2 |
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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 ) |