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cataract 40

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 NHS 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. CTRCT40 manifests as a congenital nuclear opacity with severe visual impairment in affected males. Heterozygous females have suture cataracts and only slight reduction in vision. In some cases, cataract 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:0010544:  cataract 40
DOID:0110272: cataract 40
GARD:0008278: 
MESH:C535338: