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aneurysm-osteoarthritis syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
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: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found