protein C deficiency

Summary

DOID:3756 - protein C deficiency

Disease Ontology Definition:A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.

Synonyms:

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

: proc, proc.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0019145 - hereditary thrombophilia due to congenital protein C deficiency

MONDO:0019145 - hereditary thrombophilia due to congenital protein C deficiency

MIM:

MIM:176860 - THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3

MIM:176860 - THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3

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), thrombophilia (is_a)