cataract 22 multiple types

Term ID

DOID:0110268

Synonyms

• autosomal recessive congenital nuclear cataract 2
• CATCN2
• CTRCT22

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

References

• ICD10CM:Q12.0
• OMIM:609741

Ontology

Human Disease   ( DOID:0110268 )