DO_rare_slim NCIthesaurus has material basis in Loeys-Dietz syndrome ORDO:60030 MESH:D055947 DOID:0050466 UMLS_CUI:C1836635 disease_ontology NCI:C75006 SNOMEDCT_US_2025_09_01:446263001 GARD:10788 UMLS_CUI:C2697932 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. Xref MGI. OMIM mapping confirmed by DO. [SN]. autosomal dominant disease syndrome autosomal dominant inheritance