|OBO ID: DOID:0111676|
|Term Name:||high molecular weight kininogen deficiency||Search Ontology:|
|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 KNG1 on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by KNG1. (2)|
|Ontology:||Human Disease (DOID:0111676)|
|is a type of:||
OTHER high molecular weight kininogen deficiency PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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