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Summary Literature (0)
DOID:0080290 - familial erythrocytosis 5


Disease Ontology Definition:A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21.

Synonyms: ECYT5

Xenbase Genes : epo

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0033483 - erythrocytosis, familial, 5

OMIM:
OMIM:617907 - ERYTHROCYTOSIS, FAMILIAL, 5; ECYT5

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

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