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congenital high-molecular-weight kininogen deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A rare autosomal recessive inherited disorder characterized by prolonged partial thromboplastin time and absence of bleeding diathesis.
Uniprot Description Autosomal recessive coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface-mediated activation of fibrinolysis.
Mondo Term and Equivalent IDs
MONDO:0009234:  congenital high-molecular-weight kininogen deficiency
DOID:0111676: 
GARD:0002684: 
MESH:C537060: 
NCIT:C98946: 
Orphanet:483: 
SCTID:27312002: