| Metadata | |
|---|---|
| ID | DOID:0111515 |
| Name | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/26094573 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy [EXACT] adult-onset CPEO with mitochondrial myopathy [EXACT] autosomal recessive progressive external ophthalmoplegia 2 [EXACT] PEOB2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has feature some dementia has material basis in some autosomal recessive inheritance has symptom some muscle weakness |