FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term combined deficiency of vitamin K-dependent clotting factors 2 ID (Ontology) DOID:0112174 (Human Disease)
Definition A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2.
Also Known As "VKCFD2"
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DO.org
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 Genes
 combined deficiency of vitamin K-dependent clotting factors 2       1
 for disease ribbon | combined deficiency of vitamin K-dependent clotting factors 2       1
 model of | combined deficiency of vitamin K-dependent clotting factors 2       1
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monogenic disease
 |__hereditary combined deficiency of vitamin K-dependent clotting factors__
autosomal genetic disease                                                   |
 |__autosomal recessive disease_____________________________________________|
blood coagulation disease                                                   |
 |__hereditary combined deficiency of vitamin K-dependent clotting factors__|
                                                                            combined deficiency of vitamin K-dependent clotting factors 2  1 rec.
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Is a autosomal recessive disease
hereditary combined deficiency of vitamin K-dependent clotting factors
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Synonyms
  • "VKCFD2" EXACT OMO:0003012
Secondary IDs
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MESH:C564393
MIM:607473