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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;   SCAN2;   SCAR1;   Spinocerebellar Ataxia, Autosomal Recessive 1;   ataxia with oculomotor apraxia;   ataxia-ocular apraxia 2;   ataxia-oculomotor 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
 xref: NCI:C165500
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Neurodevelopmental Disorders 6187
        communication disorder 297
          agnosia 49
            apraxia 35
              ataxia with oculomotor apraxia type 2 2
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Dyskinesias 1394
                Ataxia 546
                  hereditary ataxia 405
                    cerebellar ataxia 280
                      autosomal recessive cerebellar ataxia 157
                        Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 4
                          ataxia with oculomotor apraxia type 2 2
paths to the root