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Summary Literature (0)
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:

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

In Mondo Disease Ontology:
MONDO:0019145 - hereditary thrombophilia due to congenital protein C deficiency

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : proc, proc.2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), thrombophilia (is_a)