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 von Willebrand factor (HP:0012146)

Parent Node:
Abnormal von Willebrand factor multimer distribution (HP:0030131)

..Starting node
..Absence of large von Willibrand factor multimers (HP:0030132)

Term ID:

30132

Name:

Absence of large von Willibrand factor multimers

Synonym:

Definition:

Absence of large von Willebrand Factor multimers on gel electrophoresis.

Comments:

Reference:

HP:0030132

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal presence of ultra-large von Willebrand factor multimers (HP:0030133)

Absence of intermediate von Willibrand factor multimers (HP:0030135)

Decrease in high molecular weight von Willebrand factor Multimers (HP:0040225)

Total absence von Willebrand factor multimers (HP:0030134)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030132	HP:0030132	Absence of large von Willibrand factor multimers	0	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.