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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Gillespie syndrome
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Accession:DOID:0111578 term browser browse the term
Definition:A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in ITPR1 on chromosome 3p26.1. (DO)
Synonyms:exact_synonym: ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION;   Aniridia, partial-cerebellar ataxia-mental retardation;   GLSP;   aniridia, cerebellar ataxia, and mental deficiency;   aniridia, cerebellar ataxia, mental deficiency;   aniridia-cerebellar ataxia-intellectual disability syndrome;   partial aniridia-cerebellar ataxia-oligophrenia
 narrow_synonym: spinocerebellar ataxia, ITPR1-related
 primary_id: MESH:C536370
 alt_id: OMIA:002097;   OMIM:206700
 xref: GARD:13;   ORDO:1065
For additional species annotation, visit the Alliance of Genome Resources.

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Gillespie syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar
PMID:7952360 PMID:10664581 PMID:17558851 PMID:24091540 PMID:25741868 PMID:25794864 PMID:27062503 PMID:27108797 PMID:27108798 PMID:27862915 PMID:28659154 PMID:28826917 PMID:29169895 PMID:29925855 PMID:32499604 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    syndrome 7053
      Gillespie syndrome 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        central nervous system disease 9096
          brain disease 8405
            movement disease 1097
              Dyskinesias 795
                Ataxia 341
                  hereditary ataxia 224
                    cerebellar ataxia 186
                      Gillespie syndrome 1
paths to the root