Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive spinocerebellar ataxia 2
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
autosomal recessive spinocerebellar ataxia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pmpca peptidase, mitochondrial processing subunit alpha JBrowse link 3 3,834,262 3,842,061 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        neurodegenerative disease 2941
          primary cerebellar degeneration 218
            autosomal recessive spinocerebellar ataxia 2 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            movement disease 1010
              Dyskinesias 716
                Ataxia 307
                  hereditary ataxia 186
                    cerebellar ataxia 169
                      autosomal recessive cerebellar ataxia 59
                        autosomal recessive spinocerebellar ataxia 2 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.