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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:ataxia with oculomotor apraxia type 2
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Accession:DOID:0050755 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: AOA2;   Ataxia with Oculomotor Apraxia;   Ataxia-oculomotor apraxia 2;   SCAN2;   SCAR1;   Spinocerebellar Ataxia, Autosomal Recessive 1;   ataxia-ocular apraxia 2;   autosomal recessive spinocerebellar ataxia with axonal neuropathy 2;   recessive spinocerebellar ataxia, Non-Friedreich type 1;   spinocerebellar ataxia with axonal neuropathy type 2
 broad_synonym: SETX-RELATED DISORDER;   SETX-RELATED DISORDERS
 primary_id: MESH:C537308
 alt_id: OMIM:606002;   RDO:0003128;   RDO:9004370
 xref: NCI:C165500
For additional species annotation, visit the Alliance of Genome Resources.


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ataxia with oculomotor apraxia type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aptx aprataxin ISO ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia ClinVar PMID:24033266 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chrNW_004955472:2,645,716...2,664,394
Ensembl chrNW_004955472:2,652,869...2,664,272
JBrowse link
G Setx senataxin ISO OMIM NCBI chrNW_004955513:1,718,432...1,776,133
Ensembl chrNW_004955513:1,718,377...1,777,021
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        neurodegenerative disease 2808
          hereditary ataxia 210
            cerebellar ataxia 174
              autosomal recessive cerebellar ataxia 62
                ataxia with oculomotor apraxia type 2 2
Path 2
Term Annotations click to browse term
  disease 11876
    disease of anatomical entity 11432
      nervous system disease 9351
        central nervous system disease 7911
          brain disease 7304
            movement disease 957
              Dyskinesias 709
                Ataxia 299
                  hereditary ataxia 210
                    cerebellar ataxia 174
                      autosomal recessive cerebellar ataxia 62
                        Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 4
                          ataxia with oculomotor apraxia type 2 2
paths to the root