1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0110356 | retinitis pigmentosa 18 | A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. |
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. |
