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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
 xref: EFO:0004210



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 6:9,945,629...9,964,912
Ensembl chr 6:9,945,629...9,964,912
JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1631261 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:21823526 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7461467 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Smad4 SMAD family member 4 ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 RGD:18936999 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438
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 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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 | ClinVar Annotator: match by term: Low phospholipid associated cholelithiasis
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Thr175Ala(human)
OMIM
ClinVar
CTD
RGD
PMID:8666348 PMID:9419367 PMID:11313316 PMID:12891548 PMID:14999697 More... RGD:14694981 NCBI chr 4:25,150,998...25,209,489
Ensembl chr 4:25,151,953...25,209,202
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Anatomical Pathological Conditions 2655
        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 21128
    disease of anatomical entity 18212
      gastrointestinal system disease 7050
        hepatobiliary disease 3066
          biliary tract disease 541
            gallbladder disease 95
              cholelithiasis 16
                cholecystolithiasis 8
                  Gallstones 7
                    Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
                    Gallbladder Disease 1 + 1
paths to the root