Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the coagulation cascade (HP:0003256)help
Parent Node:
expandAbnormality of the protein C anticoagulant pathway (HP:0030780)help
..Starting node
..expandResistance to activated protein C (HP:0012175)help
Term ID: 12175
Name: Resistance to activated protein C
Synonym: Activated protein C resistance
Definition: Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay.
Comments:
Reference: HP:0012175
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandReduced protein C activity (HP:0005543) help
..expandReduced protein S activity (HP:0004855) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012175HP:0012175Resistance to activated protein C0F5 CL E G H21533542OMIM:188055Thrombophilia due to deficiency of activated protein C cofactor.159


Genes (1) :F5

Diseases (1) :OMIM:188055
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.