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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:Gallstones
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Accession:DOID:9006113 term browser browse the term
Definition:Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin.
Synonyms:exact_synonym: Biliary Calculi;   Biliary Calculi, Common Bile Duct;   Common Bile Duct Calculi;   Common Bile Duct Gall Stones;   Common Bile Duct Gallstones;   Gall Stone;   Gall Stones;   Gallstone
 primary_id: MESH:D042882;   RDO:0007505
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Gallstones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg8 ATP binding cassette subfamily G member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632509 NCBI chr 6:7,961,413...7,980,708
Ensembl chr 6:7,961,413...7,980,708
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1631261 NCBI chr 8:130,120,525...130,127,515
Ensembl chr 8:130,120,523...130,127,392
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:21823526 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7461467 NCBI chr 2:27,480,224...27,500,654
Ensembl chr 2:27,480,226...27,500,654
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 RGD:18936999 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
G Ugt1a1 UDP glucuronosyltransferase family 1 member A1 susceptibility ISO associated with Anemia, Sickle Cell;DNA:repeat:promoter:(TA)
associated with Beta-Thalassemia;DNA:repeat:promoter:(TA)
RGD PMID:15388579, PMID:14555305 RGD:10769331, RGD:10769338 NCBI chr 9:95,295,701...95,302,822
Ensembl chr 9:95,161,157...95,302,822
JBrowse link
Gallbladder Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Gallbladder disease 1
DNA:missense mutation:cds:p.Thr175Ala(human)
OMIM
ClinVar
PMID:8666348 PMID:9419367 PMID:11313316 PMID:12891548 PMID:15077010 PMID:16763017 PMID:16890614 PMID:17726488 PMID:18482588 PMID:19018976 PMID:19490418 PMID:19584064 PMID:19840255 PMID:21119540 PMID:22331132 PMID:23533021 PMID:24033266 PMID:24381502 PMID:24594635 PMID:24806754 PMID:24914347 PMID:25741868 PMID:25807286 PMID:26153658 PMID:26474921 PMID:26699824 PMID:28776642 PMID:32581362, PMID:24914347 RGD:14694981 NCBI chr 4:22,133,984...22,192,687
Ensembl chr 4:22,133,521...22,425,515
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Pathological Conditions, Signs and Symptoms 10189
      Anatomical Pathological Conditions 1990
        Calculi 38
          Gallstones 7
            Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
            Gallbladder Disease 1 + 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      gastrointestinal system disease 6054
        hepatobiliary disease 2540
          biliary tract disease 457
            gallbladder disease 78
              cholelithiasis 16
                cholecystolithiasis 8
                  Gallstones 7
                    Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
                    Gallbladder Disease 1 + 1
paths to the root