Term Name: | Loeys-Dietz syndrome 2 |
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Synonyms: | AAT3, familial throacic aortic aneurysm 3, LDS2, Marfan syndrome type II |
Definition: | A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. |
Ontology: | Human Disease [DOID:0070234] ( DOID:0070234 ) |