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cataract 11 multiple types

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the PITX3 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. CTRCT11 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Some CTRCT11 patients can present a severe phenotype including microphthalmia and neurological dysfunction.
Mondo Term and Equivalent IDs
MONDO:0012527:  cataract 11 multiple types
GARD:0010228: 
MESH:C535344: