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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 recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
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Accession:DOID:0111524 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. (DO)
Synonyms:exact_synonym: PEOB5;   progressive external ophthalmoplegia, autosomal recessive 5
 primary_id: OMIM:618098

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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 OMIM
ClinVar		 PMID:24509834 PMID:25741868 PMID:28492532 PMID:29290614 PMID:36544354 More... NCBI chrNW_004955478:11,015,378...11,045,717
Ensembl chrNW_004955478:11,015,378...11,045,717 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      eye disease 3166
        ocular motility disease 220
          ophthalmoplegia 69
            chronic progressive external ophthalmoplegia 23
              Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 10
                autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3827
          neuropathy 3646
            neuromuscular disease 2848
              muscular disease 2001
                muscle tissue disease 1200
                  myopathy 930
                    mitochondrial myopathy 110
                      chronic progressive external ophthalmoplegia 23
                        Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 10
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
paths to the root