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Summary Literature (0)
DOID:0080339 - familial erythrocytosis 4

Disease Ontology Definition:A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21.

Synonyms: ECYT4,

Xenbase Genes : epas1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012729 - erythrocytosis, familial, 4


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): primary polycythemia (is_a)