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thrombophilia due to activated protein C resistance

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Mondo Description A hemostatic disorder characterized by a poor anticoagulant response to activated protein C (APC). The activated form of Factor V (Factor Va) is more slowly degraded by activated protein C. Factor V Leiden mutation (R506Q) is the most common cause of APC resistance.
Uniprot Description A hemostatic disorder due to defective degradation of factor V by activated protein C. It is characterized by a poor anticoagulant response to activated protein C resulting in tendency to thrombosis.
Mondo Term and Equivalent IDs
MONDO:0008560:  thrombophilia due to activated protein C resistance
MESH:D020016: 
SCTID:421527008: 
UMLS:C1861171: