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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 Hypoplasia, Nonprogressive Norman Type;   Cerebelloparenchymal Disorder III;   SCAR2;   congenital cerebellar granular cell hypoplasia and mental retardation
 primary_id: MESH:C565865
 alt_id: OMIM:213200



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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2
OMIM
CTD
ClinVar
PMID:10528257 PMID:25741868 PMID:25808372 PMID:26657514 PMID:28492532 More... 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 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        neurodegenerative disease 4873
          primary cerebellar degeneration 579
            autosomal recessive spinocerebellar ataxia 2 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        central nervous system disease 12373
          brain disease 11610
            movement disease 2574
              Dyskinesias 2188
                Ataxia 957
                  hereditary ataxia 636
                    cerebellar ataxia 472
                      autosomal recessive cerebellar ataxia 164
                        autosomal recessive spinocerebellar ataxia 2 1
paths to the root