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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 2
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Accession:DOID:0111517 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. (DO)
Synonyms:exact_synonym: PEOA2;   progressive external ophthalmoplegia, autosomal dominant 2
 xref: MESH:C563750;   MIM:609283;   MONDO:0012238


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autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 		OMIM
CTD
ClinVar		 PMID:8644740 PMID:9207786 PMID:10364542 PMID:10926541 PMID:11756613 More... NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        ocular motility disease 258
          ophthalmoplegia 86
            chronic progressive external ophthalmoplegia 30
              autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        peripheral nervous system disease 4409
          neuropathy 4194
            neuromuscular disease 3236
              muscular disease 2244
                muscle tissue disease 1363
                  myopathy 1058
                    mitochondrial myopathy 99
                      chronic progressive external ophthalmoplegia 30
                        autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
paths to the root