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Metadata
ID DOID:0110268
Name cataract 22 multiple types
Definition A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11.
https://www.ncbi.nlm.nih.gov/pubmed/15914629
Xrefs

ICD10CM:Q12.0

MIM:609741

Synonyms

autosomal recessive congenital nuclear cataract 2 [NARROW]

CATCN2 [NARROW]

CTRCT22 [EXACT]

Parent Relationships

is_a cataract

is_a autosomal recessive disease

is_a autosomal dominant disease

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