Term Name: | hereditary combined deficiency of vitamin K-dependent clotting factors |
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Synonyms: | hereditary combined deficiency of factors II, VII, IX and X, VKCFD |
Definition: | A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. |
Ontology: | Human Disease [DOID:0112172] ( DOID:0112172 ) |