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posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
Mondo Term and Equivalent IDs
MONDO:0008650:  posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
GARD:0002276: 
GARD:0005487: 
MESH:C536344: 
Orphanet:2064: 
SCTID:724064004: 
UMLS:C1860464: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found