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ONTOLOGY REPORT - ANNOTATIONS


Term:stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
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Accession:DOID:0070352 term browser browse the term
Definition:A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy. (DO)
Synonyms:exact_synonym: CONDSIAS
 primary_id: OMIM:618170
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stress-induced childhood-onset neurodegeneration with variable ataxia and seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adprs ADP-ribosylserine hydrolase JBrowse link 5 144,336,312 144,341,586 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        neurodegenerative disease 3139
          stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        central nervous system disease 8844
          brain disease 8133
            movement disease 1064
              Dyskinesias 776
                Ataxia 331
                  stress-induced childhood-onset neurodegeneration with variable ataxia and seizures 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.