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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: MIM: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 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
DNA:missense mutations:cds:P.D31N,W157R,T157K(human)
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
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 NCBI chr 2:85,561,467...85,561,696 JBrowse link
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    Developmental Disease 35303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28782
        genetic disease 27296
          monogenic disease 20124
            hereditary combined deficiency of vitamin K-dependent clotting factors 4
              combined deficiency of vitamin K-dependent clotting factors 1 3
Path 2
Term Annotations click to browse term
  disease 97419
    Developmental Disease 35303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 28782
        genetic disease 27296
          monogenic disease 20124
            autosomal genetic disease 18825
              autosomal recessive disease 11129
                combined deficiency of vitamin K-dependent clotting factors 1 3
paths to the root