Visualize Submit Comment

Metadata
ID	DOID:0050466
Name	Loeys-Dietz syndrome
Definition	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. https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome
Xrefs	GARD:10788 MESH:D055947 NCI:C75006 ORDO:60030 SNOMEDCT_US_2023_03_01:446263001 UMLS_CUI:C1836635 UMLS_CUI:C2697932
Subsets	DO_rare_slim NCIthesaurus
Parent Relationships	is_a syndrome is_a autosomal dominant disease