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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: ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION;   GLSP;   aniridia, cerebellar ataxia, and mental deficiency;   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
 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
OMIM
PMID:7952360 PMID:10664581 PMID:17558851 PMID:24091540 PMID:25741868 More... NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Gillespie syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            movement disease 1416
              Dyskinesias 1078
                Ataxia 510
                  hereditary ataxia 368
                    cerebellar ataxia 277
                      Gillespie syndrome 1
paths to the root