Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Echinobase
Summary Literature (0)
DOID:0111909 - autosomal dominant thrombophilia due to protein C deficiency


Disease Ontology Definition:A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3.

Synonyms: THPH3, autosomal dominant PROC deficiency, autosomal dominant protein C deficiency,

Echinobase Genes :


OMIM:
MIM:176860 - thrombophilia due to protein c deficiency, autosomal dominant; thph3

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): protein C deficiency (is_a)