familial erythrocytosis 3

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Summary

Literature (0)

DOID:0080338 - familial erythrocytosis 3

Disease Ontology Definition:A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42.

Synonyms: ECYT3

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

: egln1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012353 - erythrocytosis, familial, 3

MONDO:0012353 - erythrocytosis, familial, 3

Other Model Organisms: Alliance, 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)