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cataract 41

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the WFS1 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.
Disease Ontology Description A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16.
Mondo Term and Equivalent IDs
MONDO:0007287:  cataract 41
DOID:0110241: cataract 41
UMLS:C3805412: