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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 chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
JBrowse link
G RGD1564308 similar to LOC495042 protein ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,291,075...46,315,616
Ensembl chr16:46,291,311...46,315,625
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 chr10:101,041,607...101,050,088
Ensembl chr10:101,042,503...101,050,087
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia ClinVar PMID:25741868 PMID:28492532 PMID:33473208 NCBI chr16:46,272,016...46,291,080
Ensembl chr16:46,272,016...46,291,059
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 chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
JBrowse link
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
JBrowse link
G Hspa5 heat shock protein family A (Hsp70) member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:18,055,507...18,059,969
Ensembl chr 3:18,055,405...18,059,891
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186
JBrowse link
G Nqo1 NAD(P)H quinone dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr19:35,295,633...35,310,528
Ensembl chr19:35,295,573...35,310,557
JBrowse link
G P4hb prolyl 4-hydroxylase subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr10:105,836,972...105,848,583
Ensembl chr10:105,836,982...105,848,500
JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24413982 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236
JBrowse link
G Tbp TATA box binding protein ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 17 OMIM
ClinVar
RGD
PMID:25741868 PMID:23699518 RGD:9681730 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
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 ClinVar Annotator: match by term: Spinocerebellar ataxia type 2 OMIM
ClinVar
PMID:25741868 NCBI chr12:34,754,132...34,851,175
Ensembl chr12:34,754,137...34,851,479
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 chr  X:69,295,598...69,436,775
Ensembl chr  X:69,295,552...69,436,858
JBrowse link
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440
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:26633542 More... NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775
JBrowse link
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Nhsl2 NHS-like 2 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:66,969,953...67,209,464
Ensembl chr  X:66,970,151...67,200,911
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455
JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked ClinVar PMID:26242992 NCBI chr  X:106,708,454...106,720,607
Ensembl chr  X:106,714,868...106,719,794
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      multiple system atrophy 40
        olivopontocerebellar atrophy 21
          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 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            movement disease 1690
              multiple system atrophy 40
                olivopontocerebellar atrophy 21
                  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