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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 4
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Accession:DOID:9004565 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. (OMIM)
Synonyms:exact_synonym: AOA4;   Ataxia-Oculomotor Apraxia 4
 primary_id: OMIM:616267
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        Hereditary Eye Diseases 758
          Ataxia with Oculomotor Apraxia Type 4 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Dyskinesias 1394
                Ataxia 546
                  Spinocerebellar Ataxias 355
                    cerebellar ataxia 280
                      autosomal recessive cerebellar ataxia 157
                        ataxia telangiectasia 100
                          Ataxia with Oculomotor Apraxia Type 4 1
paths to the root