| Metadata | |
|---|---|
| ID | DOID:0070234 |
| Name | Loeys-Dietz syndrome 2 |
| Definition | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. https://www.ncbi.nlm.nih.gov/pubmed/15235604, https://www.ncbi.nlm.nih.gov/pubmed/15731757 |
| Xrefs | |
| Synonyms |
AAT3 [EXACT] familial throacic aortic aneurysm 3 [EXACT] LDS2 [EXACT] Marfan syndrome type II [EXACT] |
| Parent Relationships |
is_a Loeys-Dietz syndrome |