familial erythrocytosis 3

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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

MIM:

MIM:609820 - ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3

MIM:609820 - ERYTHROCYTOSIS, FAMILIAL, 3; ECYT3

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)