Term Name: Loeys-Dietz syndrome 2
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 )

Relationships
is a type of: Loeys-Dietz syndrome