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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:olivopontocerebellar atrophy
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Accession:DOID:14784 term browser browse the term
Definition:A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
Synonyms:exact_synonym: Dejerine Thomas syndrome;   Familial Olivopontocerebellar Atrophies;   Familial Olivopontocerebellar Atrophy;   Idiopathic Olivopontocerebellar Atrophies;   Idiopathic Olivopontocerebellar Atrophy;   Inherited Olivopontocerebellar Atrophies;   Inherited Olivopontocerebellar Atrophy;   Nonfamilial Olivopontocerebellar Atrophies;   Nonfamilial Olivopontocerebellar Atrophy;   Olivo Ponto Cerebellar Atrophy;   Olivo Ponto Cerebellar Degeneration;   Olivo-Ponto-Cerebellar Degenerations;   Olivopontocerebellar Degeneration;   Olivopontocerebellar Degenerations;   Olivopontocerebellar Hypoplasia;   Pontoolivocerebellar Atrophies;   Pontoolivocerebellar Atrophy;   Presenile Ataxia;   Thomas' syndrome;   WADIA-SWAMI SYNDROME;   olivopontocerebellar atrophies;   presenile ataxias
 primary_id: MESH:D009849;   RDO:0002378
 xref: NCI:C84947
For additional species annotation, visit the Alliance of Genome Resources.


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olivopontocerebellar atrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO DNA:missense mutations:cds:725G>A,457A>G(human) RGD PMID:21465257 RGD:10054301 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chrNW_004955553:2,367,476...2,376,704
Ensembl chrNW_004955553:2,367,480...2,376,704
JBrowse link
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 OMIM NCBI chrNW_004955411:3,268,147...3,285,567
Ensembl chrNW_004955411:3,268,147...3,285,077
JBrowse link
spinocerebellar ataxia type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO OMIM NCBI chrNW_004955482:8,101,410...8,187,815
Ensembl chrNW_004955482:8,101,917...8,216,219
JBrowse link
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP binding cassette subfamily B member 7 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955562:1,079,884...1,220,806
Ensembl chrNW_004955562:1,077,198...1,221,061
JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955475:4,451,094...4,470,750
Ensembl chrNW_004955475:4,463,023...4,466,406
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO OMIM NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955557:1,355,471...1,515,725
Ensembl chrNW_004955557:1,355,397...1,515,393
JBrowse link
G Nhsl2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955475:11,208,632...11,523,215
Ensembl chrNW_004955475:11,243,018...11,517,526
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955475:12,020,278...12,172,427
Ensembl chrNW_004955475:12,020,629...12,172,443
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chrNW_004955490:5,409,277...5,420,508
Ensembl chrNW_004955490:5,409,202...5,415,202
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12814
    syndrome 6906
      multiple system atrophy 32
        olivopontocerebellar atrophy 19
          Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
          Olivopontocerebellar Atrophy 1 0
          Olivopontocerebellar Atrophy 3 0
          Olivopontocerebellar Atrophy II, Autosomal Recessive 0
          Spinocerebellar Atrophy with Pupillary Paralysis 0
          X-linked spinocerebellar ataxia 1 7
          spinocerebellar ataxia type 17 9
          spinocerebellar ataxia type 2 1
Path 2
Term Annotations click to browse term
  disease 12814
    disease of anatomical entity 12505
      nervous system disease 10347
        central nervous system disease 9070
          brain disease 8518
            movement disease 1244
              multiple system atrophy 32
                olivopontocerebellar atrophy 19
                  Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
                  Olivopontocerebellar Atrophy 1 0
                  Olivopontocerebellar Atrophy 3 0
                  Olivopontocerebellar Atrophy II, Autosomal Recessive 0
                  Spinocerebellar Atrophy with Pupillary Paralysis 0
                  X-linked spinocerebellar ataxia 1 7
                  spinocerebellar ataxia type 17 9
                  spinocerebellar ataxia type 2 1
paths to the root