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Cataract 12 Multiple Types (MONDO:0012701)

Open Trait in OLS

A cataract that has material basis in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.

Overview

Category

disorder of orbital region

disorder of visual system

Ontology ID

Internal:13741

Synonyms

CTRCT12

cataract 12, multiple types

Mapped terms

DOID:0110239

MEDGEN:814445

MESH:C566909

OMIM:611597

UMLS:C3808115

Child terms

Unknown children.