Mondo Description Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the CRYAB gene.

Uniprot Description An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens.

Disease Ontology Description A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q.