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: |
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Reference: |
HP:0005527 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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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.
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