FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term thrombophilia due to activated protein C resistance ID (Ontology) DOID:0111902 (Human Disease)
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.
Also Known As "activated protein C resistance" ; "APC resistance" ; "PCCF deficiency" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal dominant disease__
blood coagulation disease       |
 |__thrombophilia_______________|
                                thrombophilia due to activated protein C resistance
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Is a autosomal dominant disease
thrombophilia
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Synonyms
  • "activated protein C resistance" EXACT
    "APC resistance" EXACT
    "PCCF deficiency" EXACT
    "PROC cofactor deficiency" EXACT
    "THPH2" EXACT OMO:0003012
    "thrombophilia due to deficiency of activated protein C cofactor" EXACT
    "thrombophilia V" EXACT
Secondary IDs
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MESH:C566056
MIM:188055
UMLS_CUI:C1861171