Term Name: Loeys-Dietz syndrome 6
Synonyms:
Definition: A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21.
Ontology: Human Disease [DOID:0060964]   ( DOID:0060964 )

Relationships
is a type of: Loeys-Dietz syndrome