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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 2
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Accession:DOID:0050955 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene. (DO)
Synonyms:exact_synonym: OPCA2;   SCA2;   olivopontocerebellar atrophy 2;   olivopontocerebellar atrophy II;   olivopontocerebellar atrophy, Holguin type;   spinocerebellar ataxia 2;   spinocerebellar ataxia with slow eye movements;   spinocerebellar ataxia, Cuban type;   spinocerebellar atrophy 2;   spinocerebellar atrophy II;   spinocerebellar degeneration with slow eye movements
 primary_id: OMIM:183090
 xref: NCI:C148315;   ORDO:98756

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spinocerebellar ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 susceptibility ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 ClinVar
OMIM		 PMID:25741868 NCBI chrNW_004955482:8,101,410...8,187,815
Ensembl chrNW_004955482:8,101,917...8,216,219 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      multiple system atrophy 36
        olivopontocerebellar atrophy 22
          spinocerebellar ataxia type 2 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            movement disease 2340
              Dyskinesias 2003
                Ataxia 876
                  hereditary ataxia 594
                    cerebellar ataxia 442
                      autosomal dominant cerebellar ataxia 84
                        spinocerebellar ataxia type 2 1
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