| Metadata | |
|---|---|
| ID | DOID:0111524 |
| Name | autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 |
| Definition | A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. https://www.ncbi.nlm.nih.gov/pubmed/29290614 |
| Xrefs | |
| Synonyms |
autosomal recessive progressive external ophthalmoplegia 5 [EXACT] PEOB5 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |