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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:autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
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Accession:DOID:0111520 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. (DO)
Synonyms:exact_synonym: PEOA3;   progressive external ophthalmoplegia, autosomal dominant 3
 primary_id: MESH:C563747
 alt_id: OMIM:609286


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      eye disease 3323
        ocular motility disease 237
          ophthalmoplegia 80
            chronic progressive external ophthalmoplegia 30
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        peripheral nervous system disease 3991
          neuropathy 3800
            neuromuscular disease 2980
              muscular disease 2091
                muscle tissue disease 1265
                  myopathy 980
                    mitochondrial myopathy 121
                      chronic progressive external ophthalmoplegia 30
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
paths to the root