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ONTOLOGY REPORT - ANNOTATIONS


Term:ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
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Accession:DOID:9009163 term browser browse the term
Definition:This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy.
Synonyms:primary_id: OMIM:270500
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ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnma1 potassium calcium-activated channel subfamily M alpha 1 JBrowse link 15 344,204 1,048,849 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            movement disease 989
              Dyskinesias 702
                Ataxia 300
                  Spinocerebellar Ataxias 200
                    spastic ataxia 9
                      ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION 1
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