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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 recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
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Accession:DOID:0111516 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. (DO)
Synonyms:exact_synonym: PEOB4;   adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency;   adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency;   progressive external ophthalmoplegia, autosomal recessive 4
 primary_id: OMIM:617070
 xref: ORDO:329314

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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 OMIM
ClinVar		 PMID:9536098 PMID:11983456 PMID:16908739 PMID:17073823 PMID:17452231 More... NCBI chrNW_004955424:11,739,904...11,773,884
Ensembl chrNW_004955424:11,738,859...11,773,902 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14206
    sensory system disease 6238
      eye disease 3181
        ocular motility disease 225
          ophthalmoplegia 69
            chronic progressive external ophthalmoplegia 23
              Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 10
                autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 1
Path 2
Term Annotations click to browse term
  disease 14206
    disease of anatomical entity 13864
      nervous system disease 12142
        peripheral nervous system disease 3841
          neuropathy 3658
            neuromuscular disease 2855
              muscular disease 2006
                muscle tissue disease 1204
                  myopathy 933
                    mitochondrial myopathy 110
                      chronic progressive external ophthalmoplegia 23
                        Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 10
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 1
paths to the root