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cornea plana 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any cornea plana in which the cause of the disease is a mutation in the KERA gene.
Uniprot Description A severe form of cornea plana, a rare ocular disorder characterized by flattened corneal curvature leading to a decrease in refraction, reduced visual activity, hyperopia, hazy corneal limbus, opacities in the corneal parenchyma, and marked arcus senilis often detected at an early age. CNA2 patients manifest extreme hyperopia and additional ocular anomalies such as malformations of the iris, a slit-like pupil, and adhesions between iris and cornea.
Mondo Term and Equivalent IDs
MONDO:0009014:  cornea plana 2
MESH:C565677: 
UMLS:C1857574: