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

Add an item to the term tracker