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Metadata
ID DOID:0110264
Name cataract 33
Definition A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12.
https://www.ncbi.nlm.nih.gov/pubmed/17225135
Xrefs

ICD10CM:Q12.0

OMIM:611391

Synonyms

cortical cataract 33 [NARROW]

CTRCT33 [EXACT]

Parent Relationships

is_a cataract

is_a autosomal recessive disease

is_a autosomal dominant disease

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