|
DOID:0112172 - hereditary combined deficiency of vitamin K-dependent clotting factors
Disease Ontology 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.
Synonyms: VKCFD, hereditary combined deficiency of factors II, VII, IX and X,
Xenbase Genes
:
ggcx,
vkorc1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee