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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 2
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Accession:DOID:0111515 term browser browse the term
Definition:A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. (DO)
Synonyms:exact_synonym: PEOB2;   adult-onset CPEO with mitochondrial myopathy;   adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy;   autosomal recessive progressive external ophthalmoplegia 2
 primary_id: OMIM:616479
 xref: ORDO:329336



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autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RNASEH1 ribonuclease H1 IAGP
EXP
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:25741868 PMID:26094573 PMID:28492532 PMID:28508084 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    sensory system disease 9679
      eye disease 4887
        ocular motility disease 308
          ophthalmoplegia 109
            chronic progressive external ophthalmoplegia 46
              Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 12
                autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        peripheral nervous system disease 5330
          neuropathy 5078
            neuromuscular disease 4022
              muscular disease 2788
                muscle tissue disease 1704
                  myopathy 1379
                    mitochondrial myopathy 179
                      chronic progressive external ophthalmoplegia 46
                        Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive 12
                          autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 1
paths to the root