cataract 17 multiple types

Term ID

DOID:0110270

Synonyms

• autosomal recessive congenital nuclear cataract 3
• CATCN3
• CTRCT17

Definition

A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. https://www.ncbi.nlm.nih.gov/pubmed/12360425

References

• ICD10CM:Q12.0
• OMIM:611544

Ontology

Human Disease   ( DOID:0110270 )