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facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.
Uniprot Description A syndrome characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual non-traumatic conjunctival cysts (filtering blebs).
Mondo Term and Equivalent IDs
MONDO:0011106:  facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
MESH:C563293: 
Orphanet:412022: 
UMLS:C1832167: