Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the coagulation cascade (HP:0003256)help
Parent Node:
expandAbnormality of von Willebrand factor (HP:0012146)help
..Starting node
..expandImpaired von Willibrand factor collagen binding activity (HP:0030130)help
Term ID: 30130
Name: Impaired von Willibrand factor collagen binding activity
Synonym:
Definition: Reduced ability of von Willibrand factor (vWF) to bind collagen. Abnormal response to collagen as manifested by reduced or lacking ability of plasma von WIllebrand Factor to bind collagen. An ELISA-based assay is typically used; the test is sensitive to loss of von Willebrand Factor high molecular weight multimers.
Comments:
Reference: HP:0030130
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal von Willebrand factor multimer distribution (HP:0030131) help
..expandEnhanced ristocetin cofactor assay activity (HP:0030136) help
..expandImpaired binding of factor VIII to VWF (HP:0040237) help
..expandImpaired ristocetin cofactor assay activity (HP:0030129) help
..expandImpaired ristocetin-induced platelet aggregation (HP:0011871) help
..expandIncreased ratio of VWF propeptide to VWF antigen (HP:0040240) help
..expandReduced quantity of Von Willebrand factor (HP:0012147) help
..expandReduced von Willebrand factor activity (HP:0008330) 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:0030130HP:0030130Impaired von Willibrand factor collagen binding activity0 CL E G H


Genes (0) :

Diseases (0) :
 

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