Human Gene Set: HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR


Standard name HP_ABNORMALITY_OF_VON_WILLEBRAND_FACTOR
Systematic name M38027
Brief description Abnormality of von Willebrand factor
Full description or abstract Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. [https://orcid.org/0000-0003-2945-4463]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0012146
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0012146
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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
Dataset references  
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Version history 2023.1.Hs: Updated to HPO Release 2023-01-27.

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