1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0111522 | autosomal recessive progressive external ophthalmoplegia 1 | A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |
