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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:25741868 PMID:26285866 PMID:26467025 PMID:28492532 NCBI chr 5:56,987,714...57,009,481
Ensembl chr 5:56,987,909...57,008,859
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by OMIM:606002
ClinVar Annotator: match by term: Ataxia with Oculomotor Apraxia
ClinVar Annotator: match by term: Ataxia-ocular apraxia-2
ClinVar Annotator: match by term: Spinocerebellar ataxia autosomal recessive 1
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2
OMIM
ClinVar
PMID:14770181 PMID:15732101 PMID:17159128 PMID:18058631 PMID:18414213 PMID:18625865 PMID:19569000 PMID:19696032 PMID:20540686 PMID:20981092 PMID:21190393 PMID:22088787 PMID:23129421 PMID:23757202 PMID:23806086 PMID:23881933 PMID:23941260 PMID:24033266 PMID:24088041 PMID:24760770 PMID:25025039 PMID:25116135 PMID:25174650 PMID:25299611 PMID:25326635 PMID:25382069 PMID:25741868 PMID:25802885 PMID:26257172 PMID:26467025 PMID:26601740 PMID:26633545 PMID:27013921 PMID:27790088 PMID:28130640 PMID:28492532 PMID:28642336 PMID:28832565 PMID:29411640 PMID:29650794 PMID:32253937 NCBI chr 3:7,680,430...7,731,815
Ensembl chr 3:7,686,503...7,730,539
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        neurodegenerative disease 3342
          hereditary ataxia 244
            cerebellar ataxia 188
              autosomal recessive cerebellar ataxia 68
                ataxia with oculomotor apraxia type 2 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            movement disease 1237
              Dyskinesias 905
                Ataxia 362
                  hereditary ataxia 244
                    cerebellar ataxia 188
                      autosomal recessive cerebellar ataxia 68
                        Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 4
                          ataxia with oculomotor apraxia type 2 2
paths to the root