Term Name: | cataract 17 multiple types |
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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. |
Ontology: | Human Disease [DOID:0110270] ( DOID:0110270 ) |