You are using an outdated browser. Please upgrade your browser to improve your experience.

brittle cornea syndrome 2

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 PRDM5 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 hypermobile joints.
Mondo Term and Equivalent IDs
MONDO:0013605:  brittle cornea syndrome 2
UMLS:C3280011: