1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0060485 | Mowat-Wilson syndrome | A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. |
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. |
