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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 NCBI chr 1:264,756,060...264,762,892
Ensembl chr 1:264,756,499...264,762,892
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    sensory system disease 5163
      eye disease 2592
        ocular motility disease 173
          ophthalmoplegia 62
            chronic progressive external ophthalmoplegia 27
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            neuromuscular disease 1774
              muscular disease 1196
                muscle tissue disease 809
                  myopathy 665
                    mitochondrial myopathy 89
                      chronic progressive external ophthalmoplegia 27
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.