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brittle cornea syndrome 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene.
Uniprot Description A disorder characterized by extreme corneal thinning resulting in corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. It shares some features with, but is much less severe than, the ocular form of Ehlers-Danlos syndrome (EDS6).
Mondo Term and Equivalent IDs
MONDO:0024543:  brittle cornea syndrome 1
SCTID:31798004: