| Metadata | |
|---|---|
| ID | DOID:0070237 |
| Name | Loeys-Dietz syndrome 3 |
| Definition | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. https://www.ncbi.nlm.nih.gov/pubmed/21217753 |
| Xrefs | |
| Synonyms |
aneurysms-osteoarthritis syndrome [EXACT] LDS1C [EXACT] LDS3 [EXACT] Loeys-Dietz syndrome type 1C [EXACT] Loeys-Dietz syndrome with osteoarthritis [EXACT] |
| Parent Relationships |
is_a Loeys-Dietz syndrome |