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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 the POLG2 gene on chromosome 17q23.3. (DO)
Synonyms:exact_synonym: PEOA4;   progressive external ophthalmoplegia, autosomal dominant 4
 primary_id: MESH:C566437
 alt_id: OMIM:610131


show annotations for term's descendants           Sort by:
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: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 ClinVar PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr10:91,684,288...91,705,284
Ensembl chr10:91,687,831...91,705,282 		JBrowse link
G Polg2 DNA polymerase gamma 2, accessory subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		 OMIM
CTD
ClinVar		 PMID:16685652 PMID:19513667 PMID:21138766 PMID:21555342 PMID:22155748 More... NCBI chr10:91,712,586...91,723,008
Ensembl chr10:91,712,586...91,723,008 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      eye disease 3492
        ocular motility disease 248
          ophthalmoplegia 81
            chronic progressive external ophthalmoplegia 29
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 2
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        peripheral nervous system disease 4123
          neuropathy 3906
            neuromuscular disease 3058
              muscular disease 2147
                muscle tissue disease 1293
                  myopathy 1007
                    mitochondrial myopathy 123
                      chronic progressive external ophthalmoplegia 29
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 2
paths to the root