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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 38
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Accession:DOID:0050985 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene. (DO)
Synonyms:exact_synonym: SCA38;   spinocerebellar ataxia 38
 primary_id: OMIM:615957
 xref: EFO:0009056

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spinocerebellar ataxia type 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elovl5 ELOVL fatty acid elongase 5 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 38 OMIM
ClinVar		 PMID:25065913 PMID:25741868 PMID:28492532 PMID:31294938 NCBI chrNW_004955411:2,747,232...2,812,544
Ensembl chrNW_004955411:2,747,232...2,812,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13822
      nervous system disease 12089
        neurodegenerative disease 4401
          hereditary ataxia 594
            cerebellar ataxia 442
              autosomal dominant cerebellar ataxia 84
                spinocerebellar ataxia type 38 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13822
      nervous system disease 12089
        central nervous system disease 10855
          brain disease 10187
            movement disease 2340
              Dyskinesias 2003
                Ataxia 876
                  Spinocerebellar Ataxias 516
                    cerebellar ataxia 442
                      autosomal dominant cerebellar ataxia 84
                        spinocerebellar ataxia type 38 1
paths to the root