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
..expandIncreased ratio of VWF propeptide to VWF antigen (HP:0040240)help
Term ID: 40240
Name: Increased ratio of VWF propeptide to VWF antigen
Synonym:
Definition: An increased VWF propeptide to VWF antigen indicates that deficiency of VWF is not due to impaired synthesis but due to rapid clearance. The VWF propeptide is measured by ELISA.
Comments:
Reference: HP:0040240
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
..expandImpaired von Willibrand factor collagen binding activity (HP:0030130) 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:0040240HP:0040240Increased ratio of VWF propeptide to VWF antigen0 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.