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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 the ITPR1 gene 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aniridia-cerebellar ataxia-intellectual disability syndrome | ClinVar Annotator: match by term: Gillespie syndrome
OMIM
CTD
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 18970
    syndrome 10900
      Gillespie syndrome 2
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            movement disease 2599
              Dyskinesias 2211
                Ataxia 966
                  Spinocerebellar Ataxias 554
                    cerebellar ataxia 478
                      Gillespie syndrome 2
paths to the root