ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive spinocerebellar ataxia 18
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Accession:DOID:0080042 term browser browse the term
Definition:A neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability. Brain imaging shows progressive cerebellar atrophy. (OMIM)
Synonyms:exact_synonym: SCAR18
 primary_id: OMIM:616204;   RDO:9001574
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autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grid2 glutamate ionotropic receptor delta type subunit 2 JBrowse link 4 94,068,112 95,476,864 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        neurodegenerative disease 2536
          hereditary ataxia 194
            autosomal recessive cerebellar ataxia 69
              autosomal recessive spinocerebellar ataxia 18 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            movement disease 1006
              Dyskinesias 718
                Ataxia 308
                  hereditary ataxia 194
                    cerebellar ataxia 178
                      autosomal recessive cerebellar ataxia 69
                        autosomal recessive spinocerebellar ataxia 18 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.