1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070233 | Loeys-Dietz syndrome 4 | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050466 | Loeys-Dietz syndrome | A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. |
