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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 4
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Accession:DOID:0111525 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in POLG2 on chromosome 17q23.3. (DO)
Synonyms:exact_synonym: PEOA4;   progressive external ophthalmoplegia, autosomal dominant 4
 primary_id: MESH:C566437
 alt_id: OMIM:610131
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Milr1 mast cell immunoglobulin-like receptor 1 ISO ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 ClinVar PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 NCBI chr10:94,944,243...94,961,795
Ensembl chr10:94,944,436...94,961,791
JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO ClinVar Annotator: match by OMIM:610131
ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
OMIM
ClinVar
PMID:16685652 PMID:21555342 PMID:22155748 PMID:22176657 PMID:23197651 PMID:23596069 PMID:24033266 PMID:25741868 PMID:26123486 PMID:26251896 PMID:27535533 PMID:28492532 NCBI chr10:94,968,836...94,979,259
Ensembl chr10:94,968,836...94,979,259
JBrowse link

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 4 2
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 4 2
paths to the root