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
..expandAbnormal von Willebrand factor multimer distribution (HP:0030131)help
Term ID: 30131
Name: Abnormal von Willebrand factor multimer distribution
Synonym:
Definition: Deviation from the normal von Willebrand factor multimer pattern.
Comments:
Reference: HP:0030131
Genes and Diseases:
 
       Child Nodes:
........expandAbsence of large von Willibrand factor multimers (HP:0030132) help
........expandAbnormal presence of ultra-large von Willebrand factor multimers (HP:0030133) help
........expandTotal absence von Willebrand factor multimers (HP:0030134) help
........expandAbsence of intermediate von Willibrand factor multimers (HP:0030135) help
........expandDecrease in high molecular weight von Willebrand factor Multimers (HP:0040225) help

 Sister Nodes: 
..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
..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:0030131HP:0030131Abnormal von Willebrand factor multimer distribution0 CL E G H
HP:0030131HP:0030132Absence of large von Willibrand factor multimers1 CL E G H
HP:0030131HP:0040225Decrease in high molecular weight von Willebrand factor Multimers1 CL E G H
HP:0030131HP:0030135Absence of intermediate von Willibrand factor multimers1 CL E G H
HP:0030131HP:0030134Total absence von Willebrand factor multimers1 CL E G H
HP:0030131HP:0030133Abnormal presence of ultra-large von Willebrand factor multimers1 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.