Human Gene Set: HP_ABNORMAL_FACTOR_VIII_ACTIVITY


Standard name HP_ABNORMAL_FACTOR_VIII_ACTIVITY
Systematic name M48868
Brief description Abnormal factor VIII activity
Full description or abstract A deviation from the normal activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. []
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0030976
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External links https://hpo.jax.org/app/browse/term/HP:0030976
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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