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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:cholecystolithiasis
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Accession:DOID:11151 term browser browse the term
Definition:Presence or formation of GALLSTONES in the GALLBLADDER.
Synonyms:primary_id: MESH:D041761
 xref: EFO:1000864;   NCI:C34443
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
cholecystolithiasis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLA2G2A phospholipase A2 group IIA ISO RGD PMID:9695991 RGD:6482724 NCBI chr20:112,564,414...112,569,735
Ensembl chr20:112,565,165...112,569,786 		JBrowse link
Gallbladder Disease 1 term browser
Symbol Object Name 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 OMIM
ClinVar		 PMID:8666348 PMID:9419367 PMID:11313316 PMID:12891548 PMID:14999697 More... NCBI chr21:61,459,344...61,529,017 JBrowse link
Gallstones term browser
Symbol Object Name 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 chr14:63,389,817...63,420,048
Ensembl chr14:63,390,433...63,413,906 		JBrowse link
G CCK cholecystokinin ISO CTD Direct Evidence: marker/mechanism CTD PMID:1631261 NCBI chr22:3,698,192...3,705,443
Ensembl chr22:3,698,173...3,704,956 		JBrowse link
G HMGCR 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7461467 NCBI chr 4:69,664,784...69,690,343
Ensembl chr 4:69,665,417...69,688,686 		JBrowse link
G LOC103243509 neuroendocrine secretory protein 55 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21823526 NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192 		JBrowse link
G SMAD4 SMAD family member 4 ISO mRNA,protein:decreased expression:intrahepatic bile duct RGD PMID:16917866 RGD:18936999 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      gastrointestinal system disease 6367
        hepatobiliary disease 2758
          biliary tract disease 497
            gallbladder disease 91
              cholecystolithiasis 7
                Gallstones + 6
Path 2
Term Annotations click to browse term
  disease 15285
    disease of anatomical entity 14908
      gastrointestinal system disease 6367
        hepatobiliary disease 2758
          biliary tract disease 497
            gallbladder disease 91
              cholelithiasis 15
                cholecystolithiasis 7
                  Gallstones + 6
paths to the root