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:
Abnormal circulating protein concentration (HP:0010876)

Parent Node:
Abnormality of the intrinsic pathway (HP:0010989)

Parent Node:
Abnormality of the kinin-kallikrein system (HP:0005559)

..Starting node
..Reduced kininogen activity (HP:0005527)

Term ID:

5527

Name:

Reduced kininogen activity

Synonym:

Fitzgerald factor deficiency; Kininogen deficiency; Williams factor deficiency; Williams-Fitzgerald-Flaujeac factor deficiency

Definition:

Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade.

Comments:

Reference:

HP:0005527

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005527	HP:0005527	Reduced kininogen activity	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.