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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:antithrombin III deficiency
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Accession:DOID:3755 term browser browse the term
Definition:An absence or reduced level of Antithrombin III leading to an increased risk for thrombosis.
Synonyms:exact_synonym: ANTITHROMBIN DEFICIENCY;   AT III deficiency;   AT3D;   Antithrombin 3 Deficiencies;   Antithrombin 3 Deficiency;   Antithrombin III Deficiencies;   Congenital Antithrombin III Deficiency;   Hereditary Antithrombin Deficiency;   REDUCED ANTITHROMBIN III ACTIVITY;   THPH7;   THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY;   hereditary thrombophilia due to congenital antithrombin deficiency
 primary_id: MESH:D020152
 alt_id: OMIM:613118
 xref: NCI:C98815
For additional species annotation, visit the Alliance of Genome Resources.



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antithrombin III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd45 ankyrin repeat domain 45 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar Ensembl chr13:73,424,480...73,450,466 JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:72,437,485...72,447,810
Ensembl chr13:72,437,490...72,450,177
JBrowse link
G Cenpl centromere protein L ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,337,235...73,352,115
Ensembl chr13:73,337,257...73,352,114
JBrowse link
G Cop1 COP1, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:71,467,164...71,561,826
Ensembl chr13:71,429,961...71,538,890
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
JBrowse link
G Gas5 growth arrest specific 5 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,303,611...73,306,932 JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180
JBrowse link
G Klhl20 kelch-like family member 20 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,363,451...73,408,346
Ensembl chr13:73,363,455...73,408,337
JBrowse link
G LOC100302372 hypothetical protein LOC100302372 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103
JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:72,429,168...72,434,915
Ensembl chr13:72,408,558...72,434,915
JBrowse link
G Prdx6 peroxiredoxin 6 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
JBrowse link
G Rabgap1l RAB GTPase activating protein 1-like ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:72,464,114...73,059,845
Ensembl chr13:72,468,110...73,059,984
JBrowse link
G Rc3h1 ring finger and CCCH-type domains 1 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,174,075...73,245,762
Ensembl chr13:73,173,946...73,238,839
JBrowse link
G Scarna3 small Cajal body-specific RNA 3 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr 6:99,222,432...99,222,521
Ensembl chr 6:99,222,432...99,222,521
JBrowse link
G Serpinc1 serpin family C member 1 susceptibility ISO ClinVar Annotator: match by OMIM:613118
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Antithrombin deficiency, UMLS OMIM term: THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY
ClinVar Annotator: match by term: Thrombophilia due to antithrombin III deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Antithrombin III deficiency
ClinVar Annotator: match by term: Reduced antithrombin III activity
OMIM
ClinVar
CTD
RGD
PMID:1325679 PMID:1421387 PMID:1469094 PMID:1483705 PMID:1483709 More... RGD:1599321 NCBI chr13:73,257,208...73,271,476
Ensembl chr13:73,257,179...73,284,293
JBrowse link
G Slc9c2 solute carrier family 9, member C2 (putative) ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,424,681...73,524,244
Ensembl chr13:73,424,480...73,450,466
Ensembl chr13:73,424,480...73,450,466
JBrowse link
G Tex50 testis expressed 50 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,433,375...73,438,787
Ensembl chr13:73,433,384...73,438,792
JBrowse link
G Tnfsf18 TNF superfamily member 18 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,833,478...73,907,249
Ensembl chr13:73,831,252...73,843,169
JBrowse link
G Tnfsf4 TNF superfamily member 4 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,723,329...73,746,809
Ensembl chr13:73,723,329...73,746,788
JBrowse link
G Tnn tenascin N ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:72,319,160...72,386,362
Ensembl chr13:72,319,155...72,408,156
JBrowse link
G Tnr tenascin R ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:71,751,714...72,172,731
Ensembl chr13:72,091,585...72,167,641
JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: Reduced antithrombin III activity ClinVar NCBI chr13:73,271,920...73,303,427
Ensembl chr13:73,280,544...73,337,124
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      hematopoietic system disease 1969
        blood protein disease 410
          antithrombin III deficiency 22
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal dominant disease 4485
                antithrombin III deficiency 22
paths to the root