familial erythrocytosis 5

Summary

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 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

: epo

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0033483 - erythrocytosis, familial, 5

MONDO:0033483 - erythrocytosis, familial, 5

MIM:

MIM:617907 - ERYTHROCYTOSIS, FAMILIAL, 5; ECYT5

MIM:617907 - ERYTHROCYTOSIS, FAMILIAL, 5; ECYT5

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)