Term Name: Loeys-Dietz syndrome 1
Synonyms: AAT5, familial throacic aortic aneurysm 5, Furlong syndrome, LDS1
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
Ontology: Human Disease [DOID:0070235]   ( DOID:0070235 )

Relationships
is a type of: Loeys-Dietz syndrome