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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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: GLSP;   aniridia, cerebellar ataxia, and mental deficiency;   aniridia, cerebellar ataxia, and mental retardation;   aniridia, cerebellar ataxia, mental deficiency;   aniridia-cerebellar ataxia-intellectual disability syndrome;   partial aniridia-cerebellar ataxia-mental retardation;   partial aniridia-cerebellar ataxia-oligophrenia
 narrow_synonym: spinocerebellar ataxia, ITPR1-related
 broad_synonym: ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA
 primary_id: MESH:C536370
 alt_id: OMIA:002097;   OMIM:206700
 xref: GARD:13;   ORDO:1065


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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 OMIM
ClinVar		 PMID:7952360 PMID:9536098 PMID:10664581 PMID:17558851 PMID:17576681 More... NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491 		JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar PMID:25741868 PMID:26899008 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Gillespie syndrome 2
Path 2
Term Annotations click to browse term
  disease 21089
    disease of anatomical entity 18156
      nervous system disease 13996
        central nervous system disease 12287
          brain disease 11531
            movement disease 2551
              Dyskinesias 2166
                Ataxia 925
                  Spinocerebellar Ataxias 519
                    cerebellar ataxia 443
                      Gillespie syndrome 2
paths to the root