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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 the GGCX gene 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
 broad_synonym: GGCX-RELATED CONDITION
 primary_id: MESH:C564741
 alt_id: OMIM:277450


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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 4:104,469,737...104,485,631
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 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            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 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                combined deficiency of vitamin K-dependent clotting factors 1 2
paths to the root