Search Ontology:
Human Disease

high molecular weight kininogen deficiency

Term ID
DOID:0111676
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. (2)
References
Ontology
Human Disease   ( DOID:0111676 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models