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lethal congenital contracture syndrome

Disease Summary
Associated Targets (11)
Tbio

6

Tchem

4

Tclin

1


Mondo Description A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
Mondo Term and Equivalent IDs
MONDO:0017436:  lethal congenital contracture syndrome
GARD:0012643: 
OMIMPS:253310: 
Orphanet:294965: 
UMLS:CN239241: