| Metadata | |
|---|---|
| ID | DOID:0112172 |
| Name | hereditary combined deficiency of vitamin K-dependent clotting factors |
| 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/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:724356003 |
| Subsets |
DO_rare_slim |
| Synonyms |
hereditary combined deficiency of factors II, VII, IX and X [EXACT] VKCFD [EXACT] |
| Parent Relationships |
is_a blood coagulation disease is_a monogenic disease |