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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 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
PMID:1325679 PMID:1421387 PMID:1469094 PMID:1483705 PMID:1483709 PMID:1536946 PMID:1551681 PMID:1555650 PMID:1868237 PMID:1873224 PMID:1906811 PMID:1932746 PMID:1977621 PMID:1998601 PMID:2012760 PMID:2093312 PMID:2229057 PMID:2336381 PMID:2349545 PMID:2365065 PMID:2372510 PMID:2602168 PMID:2615648 PMID:2794060 PMID:2917133 PMID:2983542 PMID:3055413 PMID:3080419 PMID:3141397 PMID:3162733 PMID:3169232 PMID:3179438 PMID:3179448 PMID:3187951 PMID:3191114 PMID:3238650 PMID:3350974 PMID:3360140 PMID:3413737 PMID:3472589 PMID:3512602 PMID:3563974 PMID:3567355 PMID:3580302 PMID:3605071 PMID:3663508 PMID:3663935 PMID:3715788 PMID:3775688 PMID:3805013 PMID:3828226 PMID:3960724 PMID:4049307 PMID:4082101 PMID:6204398 PMID:6435583 PMID:6572945 PMID:6582486 PMID:6636045 PMID:6871107 PMID:6871478 PMID:7082587 PMID:7949130 PMID:7981186 PMID:7989582 PMID:8217824 PMID:8443391 PMID:8476848 PMID:9157604 PMID:9845533 PMID:10361121 PMID:10823268 PMID:11686319 PMID:11713457 PMID:12399451 PMID:12591924 PMID:14347873 PMID:15164384 PMID:16620552 PMID:16705712 PMID:16956830 PMID:18954896 PMID:20088933 PMID:21264449 PMID:21325262 PMID:22481271 PMID:22498748 PMID:22627591 PMID:23358206 PMID:23910795 PMID:24072242 PMID:24082793 PMID:24121110 PMID:24158114 PMID:24162787 PMID:24889358 PMID:24956267 PMID:25637381 PMID:25741868 PMID:25837307 PMID:26748602 PMID:27098529 PMID:27283015 PMID:27322195 PMID:27749296 PMID:28166811 PMID:28300866 PMID:28317092 PMID:28492532 PMID:28607330 PMID:28743742 PMID:29153735 PMID:29215785 PMID:29662868 PMID:30046692 PMID:31064749, PMID:3162535 RGD:1599321 NCBI chr13:78,806,107...78,820,375
Ensembl chr13:78,805,347...78,833,192
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      hematopoietic system disease 1757
        blood protein disease 381
          antithrombin III deficiency 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal dominant disease 3749
                antithrombin III deficiency 1
paths to the root