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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 IAGP
EXP		 DNA:mutations:splice site,exon:
ClinVar Annotator: match by term: GGCX-related condition | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT
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: GLUTAMIC ACID, DEFICIENT GAMMA-CARBOXYLATION OF | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:P.D31N,W157R,T157K(human)		 ClinVar
CTD
OMIM
RGD		 PMID:2145029 PMID:9845520 PMID:10934213 PMID:11071668 PMID:15287948 More... RGD:11040510, RGD:11040511 NCBI chr 2:85,544,720...85,561,493
Ensembl chr 2:85,544,720...85,561,532 		JBrowse link
G LOC129934217 ATAC-STARR-seq lymphoblastoid active region 16130 IAGP ClinVar Annotator: match by term: FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT ClinVar
G MAT2A methionine adenosyltransferase 2A IAGP ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT ClinVar NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281 		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 IAGP
EXP		 CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R98W (human)
ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, type 2		 OMIM
CTD
ClinVar
RGD		 PMID:11154138 PMID:14765194 PMID:15358623 PMID:15883587 PMID:16270629 More... RGD:1303972 NCBI chr16:31,090,854...31,094,797
Ensembl chr16:31,090,842...31,095,980 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18509
            hereditary combined deficiency of vitamin K-dependent clotting factors 4
              combined deficiency of vitamin K-dependent clotting factors 1 3
              combined deficiency of vitamin K-dependent clotting factors 2 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4987
          blood coagulation disease 1699
            Inherited Blood Coagulation Disease 695
              hereditary combined deficiency of vitamin K-dependent clotting factors 4
                combined deficiency of vitamin K-dependent clotting factors 1 3
                combined deficiency of vitamin K-dependent clotting factors 2 1
paths to the root