1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080791 | Treacher Collins syndrome 3 | A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
