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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 6
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Accession:DOID:0111519 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. (DO)
Synonyms:exact_synonym: DNA2-related mitochondrial DNA deletion syndrome;   PEOA6;   mitochondrial DNA deletion syndrome with limb-girdle weakness;   mitochondrial DNA deletion syndrome with progressive myopathy;   mtDNA deletion syndrome with limb-girdle weakness;   mtDNA deletion syndrome with progressive myopathy;   progressive external ophthalmoplegia, autosomal dominant 6
 broad_synonym: DNA2-RELATED CONDITION
 primary_id: MIM:615156
 xref: ORDO:352470

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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNA2 DNA replication helicase/nuclease 2 ISO ClinVar Annotator: match by term: Mitochondrial DNA deletion syndrome with progressive myopathy OMIM
ClinVar		 PMID:23352259 PMID:25741868 PMID:28492532 PMID:31478350 NCBI chr 9:62,926,221...62,985,843
Ensembl chr 9:62,926,674...62,985,842 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    sensory system disease 6596
      eye disease 3350
        ocular motility disease 246
          ophthalmoplegia 74
            chronic progressive external ophthalmoplegia 23
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 1
Path 2
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14910
      nervous system disease 13001
        peripheral nervous system disease 4031
          neuropathy 3840
            neuromuscular disease 3017
              muscular disease 2113
                muscle tissue disease 1271
                  myopathy 990
                    mitochondrial myopathy 112
                      chronic progressive external ophthalmoplegia 23
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 1
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