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Disease Ontology Browser
high molecular weight kininogen deficiency (DOID:0111676)
Alliance: disease page
Synonyms: congenital high-molecular-weight kininogen deficiency; Fitzgerald trait; HMWK deficiency
Alt IDs: OMIM:228960, MESH:C537060, NCI:C98946, ORDO:483, UMLS_CUI:C0272340
Definition: An inherited 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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory