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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:autosomal recessive spinocerebellar ataxia 10
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Accession:DOID:0050999 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene. (DO)
Synonyms:exact_synonym: SCAR10
 primary_id: OMIM:613728

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        neurodegenerative disease 4479
          hereditary ataxia 596
            cerebellar ataxia 444
              autosomal recessive cerebellar ataxia 150
                autosomal recessive spinocerebellar ataxia 10 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            movement disease 2374
              Dyskinesias 2030
                Ataxia 882
                  Spinocerebellar Ataxias 518
                    cerebellar ataxia 444
                      autosomal recessive cerebellar ataxia 150
                        autosomal recessive spinocerebellar ataxia 10 1
paths to the root