has material basis in germline mutation in TGFBR2 Loeys-Dietz syndrome 2 https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/7693 https://www.malacards.org/card/loeys_dietz_syndrome_2 Loeys-Dietz syndrome 2 MESH:C537783 MONDO:0012427 NCIT:C114768 Loeys-Dietz syndrome type 2 DOID:0070234 OMIM:610168 TGFBR2 Loeys-Dietz syndrome Orphanet:284973 Loeys-Dietz syndrome type II aortic aneurysm, familial thoracic 3 MEDGEN:382398 Marfan syndrome, type II UMLS:C2674574 Marfan syndrome, type II, formerly LDS2 Loeys-Dietz syndrome caused by mutation in TGFBR2 GARD:0010586 A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2. Loeys-Dietz syndrome