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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:ataxia with oculomotor apraxia type 3
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Accession:DOID:0060557 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: AOA3;   ataxia-oculomotor apraxia 3
 primary_id: OMIM:615217
For additional species annotation, visit the Alliance of Genome Resources.



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ataxia with oculomotor apraxia type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3r5 phosphoinositide-3-kinase, regulatory subunit 5 ISO ClinVar Annotator: match by term: Ataxia with oculomotor apraxia type 3 OMIM
ClinVar
PMID:22065524 PMID:25741868 PMID:28492532 PMID:33116287 NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    sensory system disease 6435
      eye disease 2964
        Hereditary Eye Diseases 755
          ataxia with oculomotor apraxia type 3 1
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      nervous system disease 13208
        central nervous system disease 11365
          brain disease 10659
            movement disease 1744
              Dyskinesias 1401
                Ataxia 549
                  Spinocerebellar Ataxias 357
                    cerebellar ataxia 282
                      autosomal recessive cerebellar ataxia 159
                        ataxia telangiectasia 101
                          ataxia with oculomotor apraxia type 3 1
paths to the root