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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:Cholestasis with Gallstone, Ataxia, and Visual Disturbance
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Accession:DOID:9001794 term browser browse the term
Synonyms:primary_id: MESH:C565856
 alt_id: OMIM:214980


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      eye disease 3377
        Hereditary Eye Diseases 1081
          Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      gastrointestinal system disease 6469
        hepatobiliary disease 2805
          biliary tract disease 506
            gallbladder disease 92
              cholelithiasis 15
                cholecystolithiasis 7
                  Gallstones 6
                    Cholestasis with Gallstone, Ataxia, and Visual Disturbance 0
paths to the root