Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of the coagulation cascade (HP:0003256)

Parent Node:
Abnormality of von Willebrand factor (HP:0012146)

..Starting node
..Reduced quantity of Von Willebrand factor (HP:0012147)

Term ID:

12147

Name:

Reduced quantity of Von Willebrand factor

Synonym:

Decreased von Willebrand factor

Definition:

Decreased quantity of von Willebrand factor.

Comments:

Reference:

HP:0012147

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal von Willebrand factor multimer distribution (HP:0030131)

Enhanced ristocetin cofactor assay activity (HP:0030136)

Impaired binding of factor VIII to VWF (HP:0040237)

Impaired ristocetin cofactor assay activity (HP:0030129)

Impaired ristocetin-induced platelet aggregation (HP:0011871)

Impaired von Willibrand factor collagen binding activity (HP:0030130)

Increased ratio of VWF propeptide to VWF antigen (HP:0040240)

Reduced von Willebrand factor activity (HP:0008330)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012147	HP:0012147	Reduced quantity of Von Willebrand factor	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.	127
HP:0012147	HP:0012147	Reduced quantity of Von Willebrand factor	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.	533

Genes (2) :NBEAL2 VWF

Diseases (2) :OMIM:139090 OMIM:193400

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