Term Name: | cataract 22 multiple types |
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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. |
Ontology: | Human Disease [DOID:0110268] ( DOID:0110268 ) |