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Metadata
ID DOID:0110239
Name cataract 12 multiple types
Definition A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.
https://www.ncbi.nlm.nih.gov/pubmed/10729115
Xrefs

ICD10CM:Q12.0

OMIM:611597

Synonyms

CTRCT12 [EXACT]

Parent Relationships

is_a cataract

is_a autosomal dominant disease

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