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DOID:0060474 - familial erythrocytosis 2
Disease Ontology Definition:A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25.
Synonyms: Chuvash erythromatosis, Chuvash polycythemia, Chuvash type polycythemia, ECYT2, autosomal recessive benign erythrocytosis, familial erythrocytosis 2,
Xenbase Genes : vhl
MONDO:0009892 - Chuvash polycythemia |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee