familial erythrocytosis 2

Summary

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: familial erythrocytosis 2, Chuvash polycythemia, autosomal recessive benign erythrocytosis, Chuvash erythromatosis, Chuvash type polycythemia, ECYT2

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: vhl

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009892 - Chuvash polycythemia

MONDO:0009892 - Chuvash polycythemia

MIM:

MIM:263400 - ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2

MIM:263400 - ERYTHROCYTOSIS, FAMILIAL, 2; ECYT2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal recessive disease (is_a), primary polycythemia (is_a)