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cataract 38

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 AGK gene.
Uniprot Description An opacification of the crystalline lens of the eye becoming evident at birth. It 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.
Disease Ontology Description A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34.
Mondo Term and Equivalent IDs
MONDO:0013859:  cataract 38
DOID:0110245: cataract 38
UMLS:C3553494: