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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:dentatorubral-pallidoluysian atrophy
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Accession:DOID:0060162 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. (DO)
Synonyms:exact_synonym: DRPLA;   HRS;   Haw River syndrome;   Naito Oyanagi disease;   ataxia, chorea, seizures, and dementia;   myoclonic epilepsy with choreoathetosis
 broad_synonym: ATN1-RELATED DISORDERS;   congenital ATN1-related disorder
 primary_id: MESH:C538427
 alt_id: OMIM:125370
 xref: GARD:5643;   NCI:C122653


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dentatorubral-pallidoluysian atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atn1 atrophin 1 ISO ClinVar Annotator: match by term: Dentatorubral-pallidoluysian atrophy OMIM
ClinVar		 PMID:25741868 NCBI chr 4:157,554,287...157,568,092
Ensembl chr 4:157,551,276...157,568,132 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      electroclinical syndrome 1357
        variable age at onset electroclinical syndrome 202
          progressive myoclonus epilepsy 197
            dentatorubral-pallidoluysian atrophy 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Dyskinesias 2197
                Ataxia 962
                  hereditary ataxia 640
                    cerebellar ataxia 474
                      autosomal dominant cerebellar ataxia 87
                        dentatorubral-pallidoluysian atrophy 1
paths to the root