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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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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:11554173
RGD:7240710
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 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          Gillespie Syndrome 2
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
                    cerebellar ataxia 173
                      Gillespie Syndrome 2
paths to the root