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| Term | hereditary combined deficiency of vitamin K-dependent clotting factors | ID (Ontology) | DOID:0112172 (Human Disease) |
| 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. | ||
| Also Known As | "hereditary combined deficiency of factors II, VII, IX and X" ; "VKCFD" | ||
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genetic disease |__monogenic disease__________ hematopoietic system disease | |__blood coagulation disease__| hereditary combined deficiency of vitamin K-dependent clotting factors 2 rec. |__combined deficiency of vitamin K-dependent clotting factors 1 1 rec. |__combined deficiency of vitamin K-dependent clotting factors 2 1 rec. |
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monogenic disease blood coagulation disease |
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ORDO:98434 SNOMEDCT_US_2023_03_01:724356003 UMLS_CUI:C4510617 |
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