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dyssegmental dysplasia-glaucoma syndrome

Disease Summary
Associated Targets ()

Mondo Description This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.
Mondo Term and Equivalent IDs
MONDO:0011110:  dyssegmental dysplasia-glaucoma syndrome
GARD:0002025: 
MESH:C563290: 
Orphanet:1804: 
UMLS:C1832111: