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DO Term : high molecular weight kininogen deficiency [DOID:0111676] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C0272340,
  • SNOMEDCT_US_2023_03_01:27312002,
  • ORDO:483,
  • 228960,
  • Fitzgerald trait,
  • HMWK deficiency,
  • OMIM:228960,
  • MESH:C537060,
  • congenital high-molecular-weight kininogen deficiency,
  • GARD:2684,
  • NCI:C98946
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