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Loeys-Dietz syndrome

Disease Summary
Associated Targets (8)
Tbio

4

Tchem

3

Tdark

1


Explore Associated Targets
Mondo Description Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.
Disease Ontology Description An autosomal dominant disease 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.
Mondo Term and Equivalent IDs
MONDO:0018954:  Loeys-Dietz syndrome
GARD:0010788: 
MESH:D055947: 
NCIT:C75006: 
OMIMPS:609192: 
Orphanet:60030: 
SCTID:446263001: 
UMLS:C2697932: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)