Loeys-Dietz syndrome Xref MGI. OMIM mapping confirmed by DO. [SN]. ORDO:60030 MESH:D055947 DOID:0050466 UMLS_CUI:C1836635 disease_ontology NCI:C75006 A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. SNOMEDCT_US_2020_03_01:446263001 GARD:10788 UMLS_CUI:C2697932 autosomal dominant disease syndrome