Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors
Disease ID: disease_node_17044
Connections displayed (default: 10).
Loading graph...
| Dbxref | ORDO:98434, SNOMEDCT_US_2023_03_01:724356003, UMLS_CUI:C4510617 |
|---|---|
| Subclassof | DOID_0050177, DOID_1247 |
| Data Source | DOID |
| Synonyms | VKCFD, hereditary combined deficiency of factors II, VII, IX and X |
| Doid Label | hereditary combined deficiency of vitamin K-dependent clotting factors |
| Doid Description | 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. |
| Disease Node Id | disease_node_17044 |
| Doid Id | DOID_0112172 |
| Disease Has Basis In | SO_0000704 |
| Label | Hereditary Combined Deficiency Of Vitamin K-Dependent Clotting Factors |
- Outgoing r'ship
SUBCLASS_OFto/from Blood Coagulation Disorders(ID:disease_node_1621) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Monogenic Disease(ID:disease_node_13650) (Disease)