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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
 broad_synonym: TOP3A-RELATED CONDITION
 primary_id: MIM: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 chr10:45,915,625...45,956,856
Ensembl chr10:45,419,217...45,457,559
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    sensory system disease 7373
      eye disease 3724
        ocular motility disease 257
          ophthalmoplegia 80
            chronic progressive external ophthalmoplegia 28
              Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 9
                autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        peripheral nervous system disease 4387
          neuropathy 4175
            neuromuscular disease 3222
              muscular disease 2230
                muscle tissue disease 1355
                  myopathy 1047
                    mitochondrial myopathy 99
                      chronic progressive external ophthalmoplegia 28
                        Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 9
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 1
paths to the root