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brittle cornea syndrome

Disease Summary
Associated Targets (3)
Tbio

3


Explore Associated Targets
Mondo Description Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.
Mondo Term and Equivalent IDs
MONDO:0009242:  brittle cornea syndrome
GARD:0001019: 
OMIMPS:229200: 
Orphanet:90354: 
SCTID:719096006: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)