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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 17
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Accession:DOID:0050967 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene. (DO)
Synonyms:exact_synonym: CPD2;   Cpd, Late-Onset Recessive Type;   HDL4;   Huntington Disease-Like 4;   Huntington's Disease-Like 4;   OPCA with dementia and extrapyramidal signs;   OPCA5;   Olivopontocerebellar Atrophy V;   SCA17;   cerebelloparenchymal disorder II;   spinocerebellar ataxia 17
 alt_id: DOID:9001531;   DOID:9002725
 xref: GARD:10469;   MESH:C563505;   MESH:C564616;   MESH:C565866;   MIM:607136;   MONDO:0011781;   NCI:C179861;   ORDO:98759


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spinocerebellar ataxia type 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5f1b ATP synthase F1 subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 7:1,100,058...1,106,461
Ensembl chr 7:1,099,860...1,106,462 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:38,453,016...38,457,475
Ensembl chr 3:38,453,041...38,458,790 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:50,080,514...50,084,376
Ensembl chr 8:50,080,199...50,084,372 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:53,602,882...53,614,998
Ensembl chr 8:53,602,604...53,614,997 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:52,205,374...52,220,267
Ensembl chr19:52,205,314...52,220,260 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr10:106,335,300...106,346,911
Ensembl chr10:106,335,300...106,346,911 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:128,841,781...128,865,733
Ensembl chr 3:128,841,917...128,867,327 		JBrowse link
G Tbp TATA box binding protein susceptibility ISO
ISS 		ClinVar Annotator: match by term: Spinocerebellar ataxia type 17
CTD Direct Evidence: marker/mechanism
OMIM:607136 		ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:25741868 PMID:23699518 RGD:9681730 NCBI chr 1:65,136,420...65,153,515
Ensembl chr 1:65,136,448...65,190,899 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      multiple system atrophy 51
        olivopontocerebellar atrophy 21
          spinocerebellar ataxia type 17 9
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            movement disease 2631
              Dyskinesias 2229
                Ataxia 954
                  hereditary ataxia 633
                    cerebellar ataxia 483
                      autosomal dominant cerebellar ataxia 92
                        spinocerebellar ataxia type 17 9
paths to the root