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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:A thrombophilia that is characterized by the tendency to form clots in the veins. (DO)
Synonyms:exact_synonym: ANTITHROMBIN DEFICIENCY;   AT III deficiency;   AT3D;   Antithrombin 3 Deficiency;   Antithrombin III Deficiencies;   Congenital Antithrombin III Deficiency;   Hereditary Antithrombin Deficiency;   REDUCED ANTITHROMBIN III ACTIVITY;   THPH7;   antithrombin 3 deficiencies;   hereditary thrombophilia due to congenital antithrombin deficiency;   thrombophilia due to antithrombin III deficiency
 primary_id: MESH:D020152
 alt_id: MIM:613118
 xref: NCI:C98815
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,424,766...73,450,466
Ensembl chr13:73,424,480...73,450,466 		JBrowse link
G Cacybp calcyclin binding protein ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,303,611...73,306,932 JBrowse link
G Gpr52 G protein-coupled receptor 52 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,800,265...72,804,989
Ensembl chr13:72,800,127...72,806,180 		JBrowse link
G Kiaa0040 KIAA0040 ortholog ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:72,274,519...72,312,103
Ensembl chr13:72,274,552...72,312,103 		JBrowse link
G Klhl20 kelch-like family member 20 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,363,451...73,408,293
Ensembl chr13:73,363,455...73,408,337 		JBrowse link
G Mrps14 mitochondrial ribosomal protein S14 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency ClinVar PMID:3663935 PMID:10823268 PMID:16956830 PMID:21264449 PMID:24889358 More... 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: Hereditary antithrombin deficiency 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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613118
ClinVar Annotator: match by term: Hereditary antithrombin deficiency | ClinVar Annotator: match by term: Reduced antithrombin III activity		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:1325679 PMID:1360174 PMID:1421387 PMID:1469094 PMID:1483705 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: Hereditary antithrombin deficiency ClinVar NCBI chr13:73,424,683...73,524,244
Ensembl chr13:73,451,115...73,524,239 		JBrowse link
G Tex50 testis expressed 50 ISO ClinVar Annotator: match by term: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency 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: Hereditary antithrombin deficiency 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 19100
    disease of anatomical entity 18440
      hematopoietic system disease 3822
        blood protein disease 687
          antithrombin III deficiency 22
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10860
            autosomal genetic disease 10342
              autosomal dominant disease 6692
                antithrombin III deficiency 22
paths to the root