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Metadata
ID DOID:0110269
Name cataract 3 multiple types
Definition A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.
https://www.ncbi.nlm.nih.gov/pubmed/9158139
Xrefs

ICD10CM:Q12.0

MIM:601547

Synonyms

cataract 3 multiple types with or without microcornea [EXACT]

CCA2 [NARROW]

congenital Cerulean type cataract 2 [NARROW]

CTRCT3 [EXACT]

Parent Relationships

is_a cataract

is_a autosomal dominant disease

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