OBO ID: DOID:0111676 |
Term Name: | high molecular weight kininogen deficiency | Search Ontology: | |
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Definition: | A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. (2) | ||
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Ontology: | Human Disease ( DOID:0111676 ) |
OTHER high molecular weight kininogen deficiency PAGES
ZEBRAFISH MODELS
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PHENOTYPE
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CITATIONS: None
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