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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 1
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Accession:DOID:0111521 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG on chromosome 15q26.1. (DO)
Synonyms:exact_synonym: PEOA1;   progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1
 primary_id: MESH:C563575
 alt_id: OMIM:157640
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal dominant progressive external ophthalmoplegia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1 ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
ClinVar Annotator: match by OMIM:157640
OMIM
ClinVar
PMID:632821 PMID:1858914 PMID:2067633 PMID:2725645 PMID:9536098 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 ClinVar PMID:25741868 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    sensory system disease 5678
      eye disease 2765
        ocular motility disease 132
          ophthalmoplegia 67
            chronic progressive external ophthalmoplegia 27
              autosomal dominant progressive external ophthalmoplegia 1 3
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        peripheral nervous system disease 2569
          neuropathy 2364
            neuromuscular disease 1882
              muscular disease 1285
                muscle tissue disease 832
                  myopathy 666
                    mitochondrial myopathy 90
                      chronic progressive external ophthalmoplegia 27
                        autosomal dominant progressive external ophthalmoplegia 1 3
paths to the root