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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:autosomal recessive spinocerebellar ataxia 15
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Accession:DOID:0080057 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29. (DO)
Synonyms:exact_synonym: SCAR15;   Salih ataxia
 primary_id: OMIM:615705
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive spinocerebellar ataxia 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 15 OMIM
ClinVar
PMID:20826435 PMID:23728897 PMID:25741868 PMID:28492532 PMID:30237576 More... NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        neurodegenerative disease 3902
          hereditary ataxia 405
            cerebellar ataxia 280
              autosomal recessive cerebellar ataxia 157
                autosomal recessive spinocerebellar ataxia 15 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Dyskinesias 1394
                Ataxia 546
                  Spinocerebellar Ataxias 355
                    cerebellar ataxia 280
                      autosomal recessive cerebellar ataxia 157
                        autosomal recessive spinocerebellar ataxia 15 1
paths to the root