| Metadata | |
|---|---|
| ID | DOID:0060964 |
| Name | Loeys-Dietz syndrome 6 |
| Definition | A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. https://pubmed.ncbi.nlm.nih.gov/30157302/ |
| Xrefs | |
| Parent Relationships |
is_a Loeys-Dietz syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |