Search Ontology:
Human Disease

hereditary combined deficiency of vitamin K-dependent clotting factors

Term ID
DOID:0112172
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. https://pubmed.ncbi.nlm.nih.gov/20630065/
References
  • ORDO:98434
  • SNOMEDCT_US_2023_03_01:724356003
  • UMLS_CUI:C4510617
Ontology
Human Disease   ( DOID:0112172 )
Relationships
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has subtype
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Genes Involved
Zebrafish Models