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Standards Ontologies Notations
thrombophilia due to activated protein C resistance

Summary
Synonym
  • APC resistance
  • PCCF deficiency
  • PROC cofactor deficiency
  • THPH2
  • activated protein C resistance
  • thrombophilia V
  • thrombophilia due to deficiency of activated protein C cofactor
Definition
A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2.
Super Class
autosomal dominant disease thrombophilia
Disease Ontology
DOID:0111902
Mondo Disease Ontology
MeSH
UMLS
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2153 F5 coagulation factor V
5624 PROC protein C, inactivator of coagulation factors Va and VIIIa
Displaying all 2 entries
Gene ID Gene Symbol Description Source
14067 F5 coagulation factor V
19123 Proc protein C
Displaying 1 entry
Gene ID Gene Symbol Description Source
25268 Proc protein C, inactivator of coagulation factors Va and VIIIa
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024