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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 DNA2 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
 primary_id: OMIM:615156
 xref: ORDO:352470
For additional species annotation, visit the Alliance of Genome Resources.


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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: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 OMIM
ClinVar
PMID:23352259 PMID:25741868 NCBI chr20:25,661,652...25,690,598 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      eye disease 2733
        ocular motility disease 135
          ophthalmoplegia 67
            chronic progressive external ophthalmoplegia 28
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        peripheral nervous system disease 2533
          neuropathy 2330
            neuromuscular disease 1835
              muscular disease 1236
                muscle tissue disease 827
                  myopathy 661
                    mitochondrial myopathy 89
                      chronic progressive external ophthalmoplegia 28
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 1
paths to the root