1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0110955 | Waardenburg syndrome type 4C | A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050736 | autosomal dominant disease | An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. |
