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Term:Gillespie Syndrome
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Accession:DOID:9004158 term browser browse the term
Synonyms:exact_synonym: ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION;   Aniridia, Cerebellar Ataxia, And Mental Deficiency;   Aniridia, partial-cerebellar ataxia-mental retardation;   Aniridia, partial-cerebellar ataxia-oligophrenia;   GLSP;   aniridia, cerebellar ataxia, mental deficiency
 narrow_synonym: spinocerebellar ataxia, ITPR1-related
 primary_id: MESH:C536370
 alt_id: OMIA:002097;   OMIM:206700;   RDO:0001932
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Gillespie Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Neurodevelopmental Disorders 2761
        intellectual disability 1589
          Gillespie Syndrome 2
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            movement disease 999
              Dyskinesias 707
                Ataxia 296
                  hereditary ataxia 184
                    cerebellar ataxia 168
                      Gillespie Syndrome 2
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.