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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:GRID2-related spinocerebellar ataxia
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Accession:DOID:0050988 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. (DO)


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        neurodegenerative disease 4895
          hereditary ataxia 635
            cerebellar ataxia 471
              autosomal dominant cerebellar ataxia 87
                GRID2-related spinocerebellar ataxia 0
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            movement disease 2576
              Dyskinesias 2190
                Ataxia 956
                  Spinocerebellar Ataxias 547
                    cerebellar ataxia 471
                      autosomal dominant cerebellar ataxia 87
                        GRID2-related spinocerebellar ataxia 0
paths to the root