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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,
Xenbase Genes
:
proc,
proc.2
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)