|
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,
Echinobase Genes :
MIM:263400 - erythrocytosis, familial, 2; ecyt2 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee