OBO ID: DOID:0111676
Term Name: high molecular weight kininogen deficiency Search Ontology:
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 KNG1 on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by KNG1. (2)
References:
Ontology: Human Disease   (DOID:0111676)
OTHER high molecular weight kininogen deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KNG1 [High molecular weight kininogen deficiency] 228960
[Kininogen deficiency] 228960
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None