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

Xenbase Genes : proc, proc.2



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

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