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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 ClinVar Annotator: match by OMIM:607473
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.R98W (human)
ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, 2
OMIM
ClinVar
CTD
PMID:11154138 PMID:14765194 PMID:15358623 PMID:15883587 PMID:16270629 PMID:16270630 PMID:16611750 PMID:16676068 PMID:16879214 PMID:16890578 PMID:17049586 PMID:17110455 PMID:17189218 PMID:18252229 PMID:18466099 PMID:19344422 PMID:20128861 PMID:20653676 PMID:21127708 PMID:21326313 PMID:21635147 PMID:22349464 PMID:22676192 PMID:22871975 PMID:22992668 PMID:23039877 PMID:23208322 PMID:23571513 PMID:23990957 PMID:24019055 PMID:24838629 PMID:25084205 PMID:25126975 PMID:25519826 PMID:25594941 PMID:25741868 PMID:28492532, PMID:14765194 RGD:1303972 NCBI chr 1:199,338,785...199,341,306
Ensembl chr 1:199,337,138...199,341,302
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      hematopoietic system disease 1751
        blood coagulation disease 636
          Coagulation Protein Disorders 54
            combined deficiency of vitamin K-dependent clotting factors 2 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Hemic and Lymphatic Diseases 2166
        hematopoietic system disease 1751
          blood coagulation disease 636
            Inherited Blood Coagulation Disease 103
              hereditary combined deficiency of vitamin K-dependent clotting factors 3
                combined deficiency of vitamin K-dependent clotting factors 2 1
paths to the root