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Summary Literature (0)
DOID:0110270 - cataract 17 multiple types


Disease Ontology Definition:A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12.

Synonyms: CATCN3; CTRCT17; autosomal recessive congenital nuclear cataract 3

Referenced OMIM:
OMIM:611544 - CATARACT 17, MULTIPLE TYPES; CTRCT17

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : crybb1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): cataract (is_a)


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