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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 51
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Accession:DOID:9009177 term browser browse the term
Definition:An autosomal dominant neurologic disorder characterized by progressive gait abnormalities, ataxia, and dysarthria. Caused by heterozygous trinucleotide (CAG)n repeat expansion in the THAP11 gene on chromosome 16q22.
Synonyms:exact_synonym: SCA51
 xref: MIM:620947


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Spinocerebellar Ataxia 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thap11 THAP domain containing 11 ISO OMIM NCBI chr19:33,746,977...33,748,794
Ensembl chr19:33,746,854...33,749,540 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        neurodegenerative disease 5005
          hereditary ataxia 629
            cerebellar ataxia 480
              autosomal dominant cerebellar ataxia 90
                Spinocerebellar Ataxia 51 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            movement disease 2626
              Dyskinesias 2228
                Ataxia 952
                  Spinocerebellar Ataxias 555
                    cerebellar ataxia 480
                      autosomal dominant cerebellar ataxia 90
                        Spinocerebellar Ataxia 51 1
paths to the root