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
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
ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 CTD Direct Evidence: marker/mechanism