You are using an outdated browser. Please upgrade your browser to improve your experience.

aneurysm-osteoarthritis syndrome

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Uniprot Description An aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Patients with LDS3 also manifest early-onset osteoarthritis. They lack craniosynostosis and mental retardation.
Mondo Term and Equivalent IDs
MONDO:0013426:  aneurysm-osteoarthritis syndrome
GARD:0010997: 
Orphanet:284984: 
UMLS:C3151087: