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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 neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. (DO)
Synonyms:exact_synonym: Dejerine Thomas syndrome;   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;   familial olivopontocerebellar atrophies;   olivopontocerebellar atrophies;   presenile ataxias
 primary_id: MESH:D009849
 xref: NCI:C84947
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
olivopontocerebellar atrophy term browser
Symbol Object Name Qualifiers 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 chr10:33,470,089...33,495,584
Ensembl chr10:33,445,148...33,543,710 		JBrowse link
G CFAP96 cilia and flagella associated protein 96 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr15:46,470,680...46,612,173
Ensembl chr15:46,470,765...46,490,006 		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:20301773 More... NCBI chr12:5,847,170...5,855,791
Ensembl chr12:5,847,187...5,854,882 		JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:25741905 PMID:28492532 PMID:33473208 NCBI chr15:46,448,918...46,470,616
Ensembl chr15:46,448,904...46,470,572 		JBrowse link
Olivopontocerebellar Atrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN1 ataxin 1 ISO ClinVar Annotator: match by term: Spinocerebellar atrophy 1 ClinVar PMID:25741868 NCBI chr 7:12,299,938...12,730,850
Ensembl chr 7:12,301,013...12,457,450 		JBrowse link
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 5:21,984,750...21,992,393
Ensembl chr 5:21,984,580...21,992,407 		JBrowse link
G HMOX1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,894 		JBrowse link
G HSPA8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:49,982,278...49,986,760
Ensembl chr 9:49,982,284...49,990,508 		JBrowse link
G HYOU1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 9:46,264,929...46,277,056
Ensembl chr 9:46,264,933...46,276,995 		JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 6:17,292,962...17,302,593
Ensembl chr 6:17,292,770...17,302,590 		JBrowse link
G P4HB prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr12:1,121,816...1,131,291
Ensembl chr12:1,121,824...1,131,289 		JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196 		JBrowse link
G TBP TATA-box binding protein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 ClinVar
OMIM		 PMID:25741868 NCBI chr 1:5,669...23,675 JBrowse link
spinocerebellar ataxia type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATXN2 ataxin 2 susceptibility ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 ClinVar
OMIM		 PMID:25741868 NCBI chr14:32,656,537...32,772,082
Ensembl chr14:32,665,122...32,771,813 		JBrowse link
X-linked spinocerebellar ataxia 1 term browser
Symbol Object Name Qualifiers 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 chr  X:60,186,559...60,313,098
Ensembl chr  X:60,186,814...60,313,064 		JBrowse link
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:50,842,049...50,864,105
Ensembl chr  X:50,844,683...50,864,032 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: X-linked progressive cerebellar ataxia OMIM
ClinVar		 PMID:10797423 PMID:22912398 PMID:25326635 PMID:25741868 PMID:25741913 More... NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653 		JBrowse link
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048 		JBrowse link
G NHSL2 NHS like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:57,741,172...58,028,266
Ensembl chr  X:57,742,114...58,030,951 		JBrowse link
G PHKA1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 PMID:28492532 NCBI chr  X:58,456,097...58,583,216
Ensembl chr  X:58,455,939...58,583,216 		JBrowse link
G RTL9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:90,553,099...90,565,001
Ensembl chr  X:90,559,021...90,565,035 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      multiple system atrophy 41
        olivopontocerebellar atrophy 22
          Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
          Olivopontocerebellar Atrophy 1 1
          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 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        central nervous system disease 11610
          brain disease 10899
            movement disease 2451
              multiple system atrophy 41
                olivopontocerebellar atrophy 22
                  Microcephaly Pontocerebellar Hypoplasia Dyskinesia 0
                  Olivopontocerebellar Atrophy 1 1
                  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