has material basis in germline mutation in TGFBR1 Loeys-Dietz syndrome 1 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/loeys_dietz_syndrome_1 aortic aneurysm, familial thoracic 5 Furlong syndrome Loeys-Dietz aortic aneurysm syndrome Loeys-Dietz syndrome caused by mutation in TGFBR1 NCIT:C75119 MEDGEN:1646567 Orphanet:97295 Loeys-Dietz syndrome type 1 A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones. TGFBR1 Loeys-Dietz syndrome DOID:0070235 Loeys-Dietz syndrome 1 OMIM:609192 UMLS:C4551955 LDS1 GARD:0009458 MONDO:0012212 Loeys-Dietz syndrome