| Metadata | |
|---|---|
| ID | DOID:0070235 |
| Name | Loeys-Dietz syndrome 1 |
| Definition | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/15731757 |
| Xrefs | |
| Synonyms |
AAT5 [EXACT] familial throacic aortic aneurysm 5 [EXACT] Furlong syndrome [EXACT] LDS1 [EXACT] |
| Parent Relationships |
is_a Loeys-Dietz syndrome |