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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:autosomal recessive spinocerebellar ataxia 2
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Accession:DOID:0080061 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: CPD III;   CPD3;   Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital;   Cerebellar Hypoplasia, Nonprogressive Norman Type;   Cerebelloparenchymal Disorder III;   SCAR2
 primary_id: MESH:C565865;   RDO:0014396
 alt_id: OMIM:213200
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pmpca peptidase, mitochondrial processing subunit alpha ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 OMIM
ClinVar
PMID:10528257 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 NCBI chr 3:9,207,731...9,216,846
Ensembl chr 3:9,207,717...9,216,844
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        neurodegenerative disease 3870
          primary cerebellar degeneration 379
            autosomal recessive spinocerebellar ataxia 2 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            movement disease 1690
              Dyskinesias 1344
                Ataxia 536
                  hereditary ataxia 396
                    cerebellar ataxia 275
                      autosomal recessive cerebellar ataxia 156
                        autosomal recessive spinocerebellar ataxia 2 1
paths to the root