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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
 primary_id: MESH:C564616
 alt_id: DOID:9001531;   DOID:9002725;   MESH:C563505;   MESH:C565866;   OMIM:607136
 xref: EFO:0003091;   GARD:10469;   MONDO:0011781;   NCI:C179861

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spinocerebellar ataxia type 17 term browser
Symbol Object Name 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 chrNW_004955458:4,188,167...4,195,575
Ensembl chrNW_004955458:4,186,461...4,195,494 		JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955405:43,124,447...43,128,873
Ensembl chrNW_004955405:43,124,510...43,130,979 		JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955419:3,055,420...3,060,208
Ensembl chrNW_004955419:3,055,420...3,062,131 		JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955412:23,863,513...23,867,984
Ensembl chrNW_004955412:23,862,590...23,867,984 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955412:20,149,104...20,161,378
Ensembl chrNW_004955412:20,148,953...20,161,172 		JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955484:7,012,373...7,028,182
Ensembl chrNW_004955484:7,012,506...7,027,604 		JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955506:1,307,932...1,322,011
Ensembl chrNW_004955506:1,307,932...1,324,027 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chrNW_004955416:10,197,957...10,221,104
Ensembl chrNW_004955416:10,198,099...10,220,792 		JBrowse link
G Tbp TATA-box binding protein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 ClinVar
OMIM		 PMID:25741868 NCBI chrNW_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      multiple system atrophy 36
        olivopontocerebellar atrophy 22
          spinocerebellar ataxia type 17 9
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            movement disease 2340
              Dyskinesias 2003
                Ataxia 876
                  hereditary ataxia 594
                    cerebellar ataxia 442
                      autosomal dominant cerebellar ataxia 84
                        spinocerebellar ataxia type 17 9
paths to the root