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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:spinocerebellar ataxia type 10
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Accession:DOID:0050960 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene. (DO)
Synonyms:exact_synonym: SCA10;   spinocerebellar ataxia 10
 primary_id: MESH:C566874
 alt_id: OMIM:603516
 xref: GARD:10474


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spinocerebellar ataxia type 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn10 ataxin 10 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr 7:116,441,768...116,565,093
Ensembl chr 7:116,441,613...116,565,087 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        neurodegenerative disease 4902
          hereditary ataxia 640
            cerebellar ataxia 474
              autosomal dominant cerebellar ataxia 87
                spinocerebellar ataxia type 10 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            movement disease 2583
              Dyskinesias 2196
                Ataxia 962
                  Spinocerebellar Ataxias 550
                    cerebellar ataxia 474
                      autosomal dominant cerebellar ataxia 87
                        spinocerebellar ataxia type 10 1
paths to the root