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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 1
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Accession:DOID:0112173 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 GGCX on chromosome 2p11.2. (DO)
Synonyms:exact_synonym: FMFD III;   Factors II, VII, IX, And X, Combined Deficiency Of;   Familial Multiple Coagulation Factor Deficiency III;   Glutamic Acid, Deficient Gamma-Carboxylation Of;   MCFD3;   Multiple Coagulation Factor Deficiency III;   VKCFD;   VKCFD1;   Vitamin K-Dependent Coagulation Defect
 primary_id: MESH:C564741
 alt_id: OMIM:277450
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, 1
ClinVar Annotator: match by OMIM:277450
DNA:mutations:splice site,exon:
DNA:missense mutations:cds:P.D31N,W157R,T157K(human)
ClinVar Annotator: match by term: Vitamin k-dependent clotting factors, combined deficiency of, 1
OMIM
ClinVar
PMID:2145029 PMID:9845520 PMID:10934213 PMID:11071668 PMID:15287948 PMID:16720838 PMID:17144668 PMID:20075945 PMID:28492532, PMID:15287948, PMID:16720838 RGD:11040510, RGD:11040511 NCBI chr 4:100,277,345...100,293,097
Ensembl chr 4:100,277,391...100,293,250
JBrowse link
G Mat2a methionine adenosyltransferase 2A ISO ClinVar Annotator: match by term: Vitamin K-dependent clotting factors, combined deficiency of, 1 ClinVar NCBI chr 4:100,297,478...100,303,047
Ensembl chr 4:100,296,075...100,303,080
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            hereditary combined deficiency of vitamin K-dependent clotting factors 3
              combined deficiency of vitamin K-dependent clotting factors 1 2
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                combined deficiency of vitamin K-dependent clotting factors 1 2
paths to the root