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cataract 15 multiple types

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 MIP 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. CTRCT15 includes polymorphic, progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical, among others.
Disease Ontology Description A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13.
Mondo Term and Equivalent IDs
MONDO:0014110:  cataract 15 multiple types
UMLS:C3809001: