1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070509 | Schinzel Giedion syndrome | An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. |
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. |
