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cataract 45

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 SIPA1L3 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. 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 SIPA1L3 gene on chromosome 19q13.
Mondo Term and Equivalent IDs
MONDO:0014799:  cataract 45
DOID:0110262: cataract 45
UMLS:C4225182: