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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 37
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Accession:DOID:0050984 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene. (DO)
Synonyms:exact_synonym: SCA37;   spinocerebellar ataxia 37
 primary_id: OMIM:615945


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spinocerebellar ataxia type 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 37 OMIM
ClinVar		 PMID:23700170 PMID:25741868 PMID:28686858 PMID:29939198 NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552 		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 37 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 37 1
paths to the root