ZFIN Human Disease: hereditary combined deficiency of vitamin K-dependent clotting factors

OBO ID: DOID:0112172

Term Name:	hereditary combined deficiency of vitamin K-dependent clotting factors		Search Ontology:
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

is a type of:	blood coagulation disease monogenic disease blood coagulation disease monogenic disease Show first 5 Terms
has subtype:	combined deficiency of vitamin K-dependent clotting factors 1 combined deficiency of vitamin K-dependent clotting factors 2 combined deficiency of vitamin K-dependent clotting factors 1 combined deficiency of vitamin K-dependent clotting factors 2 Show first 5 Terms

OTHER hereditary combined deficiency of vitamin K-dependent clotting factors PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None