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ONTOLOGY REPORT - ANNOTATIONS


Term:spinocerebellar ataxia type 28
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Accession:DOID:0050977 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. (DO)
Synonyms:exact_synonym: SCA28;   Spinocerebellar Ataxia 28
 primary_id: MESH:C537205;   RDO:0002994
 alt_id: OMIM:610246
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spinocerebellar ataxia type 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 JBrowse link 18 63,141,418 63,185,510 RGD:7240710
RGD:8554872
RGD:11532671
RGD:11532673
RGD:11532674
RGD:11532675
RGD:11532678
RGD:11534993

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        neurodegenerative disease 2692
          hereditary ataxia 186
            autosomal dominant cerebellar ataxia 63
              spinocerebellar ataxia type 28 1
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            movement disease 1000
              Dyskinesias 709
                Ataxia 301
                  hereditary ataxia 186
                    cerebellar ataxia 169
                      autosomal dominant cerebellar ataxia 63
                        spinocerebellar ataxia type 28 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.