1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0110229 | cataract 6 multiple types | A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. |
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. |
