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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: MIM:615217


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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:31589614 PMID:33116287 NCBI chr10:53,132,585...53,200,663
Ensembl chr10:53,132,603...53,199,374 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    syndrome 11271
      primary immunodeficiency disease 4421
        ataxia telangiectasia 101
          ataxia with oculomotor apraxia type 3 1
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            movement disease 2625
              Dyskinesias 2227
                Ataxia 953
                  Spinocerebellar Ataxias 555
                    cerebellar ataxia 480
                      autosomal recessive cerebellar ataxia 167
                        ataxia telangiectasia 101
                          ataxia with oculomotor apraxia type 3 1
paths to the root