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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive spinocerebellar ataxia 12
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Accession:DOID:0080060 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. (DO)
Synonyms:exact_synonym: SCAR12;   spinocerebellar ataxia with mental retardation and epilepsy
 primary_id: OMIM:614322
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autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
G Wwox WW domain-containing oxidoreductase JBrowse link 19 46,761,353 47,695,247 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Neurodevelopmental Disorders 4303
        intellectual disability 1940
          autosomal recessive spinocerebellar ataxia 12 2
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            movement disease 1070
              Dyskinesias 780
                Ataxia 335
                  Spinocerebellar Ataxias 221
                    cerebellar ataxia 186
                      autosomal recessive cerebellar ataxia 68
                        autosomal recessive spinocerebellar ataxia 12 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.