Term Name: | high molecular weight kininogen deficiency |
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Synonyms: | congenital high-molecular-weight kininogen deficiency, Fitzgerald trait, HMWK deficiency |
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. |
Ontology: | Human Disease [DOID:0111676] ( DOID:0111676 ) |