factor VII deficiency

Summary

DOID:2215 - factor VII deficiency

Disease Ontology Definition:A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade.

Synonyms: deficiency, stable, Factor VII deficiency, Factor VII deficiency (disorder)

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

: f7

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009211 - congenital factor VII deficiency

MONDO:0009211 - congenital factor VII deficiency

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), blood coagulation disease (is_a)