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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 15
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Accession:DOID:0050965 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. (DO)
Synonyms:exact_synonym: SCA15;   SCA16;   spinocerebellar ataxia 15;   spinocerebellar ataxia 16;   spinocerebellar ataxia type 15/16;   spinocerebellar ataxia type 16
 broad_synonym: ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA
 primary_id: MESH:C564685
 alt_id: DOID:0050966;   MIM:606658
 xref: NCI:C150250


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spinocerebellar ataxia type 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO DNA:deletions:multiple (human)
ClinVar Annotator: match by term: Spinocerebellar Ataxia Type 15 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16
DNA:deletions:exons, introns:g.4498593_4736400del, 4409618_4851975del (human)
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD
RGD		 PMID:10664581 PMID:12824425 PMID:14981189 PMID:15623688 PMID:17932120 More... RGD:6480683, RGD:6480871 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Rubcn rubicon autophagy regulator ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 ClinVar PMID:25741868 NCBI chr11:67,907,534...67,964,347
Ensembl chr11:67,907,516...67,964,314 		JBrowse link
G Setmar SET domain and mariner transposase fusion gene ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 15/16 ClinVar PMID:17932120 PMID:20669319 PMID:21681106 NCBI chr 4:141,046,058...141,058,183
Ensembl chr 4:141,046,069...141,058,197 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        neurodegenerative disease 5008
          hereditary ataxia 630
            cerebellar ataxia 480
              autosomal dominant cerebellar ataxia 90
                spinocerebellar ataxia type 15 3
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            movement disease 2627
              Dyskinesias 2229
                Ataxia 953
                  Spinocerebellar Ataxias 555
                    cerebellar ataxia 480
                      autosomal dominant cerebellar ataxia 90
                        spinocerebellar ataxia type 15 3
paths to the root