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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 TWNK on chromosome 10q24.31. (DO)
Synonyms:exact_synonym: PEOA3;   progressive external ophthalmoplegia, autosomal dominant 3
 primary_id: MESH:C563747
 alt_id: OMIM:609286
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by OMIM:609286
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3
ClinVar
OMIM
PMID:1634620 PMID:10522883 PMID:11431692 PMID:12163192 PMID:15668446 PMID:17614277 PMID:19353676 PMID:19513767 PMID:20479361 PMID:20659899 PMID:21689831 PMID:24018892 PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:27551684 PMID:28492532 PMID:28812649 PMID:29458409 PMID:31271879 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    sensory system disease 5332
      eye disease 2643
        ocular motility disease 133
          ophthalmoplegia 67
            chronic progressive external ophthalmoplegia 28
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                muscle tissue disease 814
                  myopathy 650
                    mitochondrial myopathy 88
                      chronic progressive external ophthalmoplegia 28
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
paths to the root