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pulverulent cataract

Disease Summary
Associated Targets (9)
Tbio

9


Mondo Description A cataract that has material basis in heterozygous mutation in the CRYGC gene on chromosome 2q33.
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. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.
Mondo Term and Equivalent IDs
MONDO:0011430:  pulverulent cataract
MESH:C565133: 
Orphanet:98984: 
UMLS:C1833118: 
UMLS:C1852438: 
UMLS:CN207240: