| Metadata | |
|---|---|
| ID | DOID:0050466 |
| Name | Loeys-Dietz syndrome |
| Definition | 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. https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome |
| Xrefs |
SNOMEDCT_US_2023_03_01:446263001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |