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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hereditary combined deficiency of vitamin K-dependent clotting factors
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Accession:DOID:0112172 term browser browse the term
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. (DO)
Synonyms:exact_synonym: hereditary combined deficiency of factors II, VII, IX and X
 xref: ORDO:98434


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combined deficiency of vitamin K-dependent clotting factors 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggcx gamma-glutamyl carboxylase ISO DNA:mutations:splice site,exon:
DNA:missense mutations:cds:P.D31N,W157R,T157K(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF | ClinVar Annotator: match by term: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III | ClinVar Annotator: match by term: GGCX-related condition | ClinVar Annotator: match by term: GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT		 OMIM
CTD
ClinVar
RGD		 PMID:2145029 PMID:9845520 PMID:10934213 PMID:11071668 PMID:15287948 More... RGD:11040510, RGD:11040511 NCBI chr 4:106,027,918...106,043,653
Ensembl chr 4:104,469,765...104,487,063 		JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT ClinVar NCBI chr 4:106,048,043...106,053,612
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
combined deficiency of vitamin K-dependent clotting factors 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vkorc1 vitamin K epoxide reductase complex, subunit 1 ISO DNA:missense mutation: :p.R98W (human)
ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, type 2		 OMIM
ClinVar
RGD		 PMID:11154138 PMID:14765194 PMID:15358623 PMID:15883587 PMID:16270629 More... RGD:1303972 NCBI chr 1:191,932,969...191,935,490
Ensembl chr 1:182,500,844...182,505,008 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            hereditary combined deficiency of vitamin K-dependent clotting factors 3
              combined deficiency of vitamin K-dependent clotting factors 1 2
              combined deficiency of vitamin K-dependent clotting factors 2 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Hemic and Lymphatic Diseases 4329
        hematopoietic system disease 3837
          blood coagulation disease 1445
            Inherited Blood Coagulation Disease 704
              hereditary combined deficiency of vitamin K-dependent clotting factors 3
                combined deficiency of vitamin K-dependent clotting factors 1 2
                combined deficiency of vitamin K-dependent clotting factors 2 1
paths to the root