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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:combined deficiency of vitamin K-dependent clotting factors 2
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Accession:DOID:0112174 term browser browse the term
Definition:A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in VKORC1 on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: VKCFD2;   combined deficiency of vitamin K-dependent clotting factors, type 2
 primary_id: MESH:C564393
 alt_id: OMIM:607473
For additional species annotation, visit the Alliance of Genome Resources.



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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 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 chr 1:182,502,491...182,505,012
Ensembl chr 1:182,500,844...182,505,008
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      hematopoietic system disease 2847
        blood coagulation disease 843
          Coagulation Protein Disorders 91
            combined deficiency of vitamin K-dependent clotting factors 2 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      Hemic and Lymphatic Diseases 3312
        hematopoietic system disease 2847
          blood coagulation disease 843
            Inherited Blood Coagulation Disease 165
              hereditary combined deficiency of vitamin K-dependent clotting factors 3
                combined deficiency of vitamin K-dependent clotting factors 2 1
paths to the root