cataract 22 multiple types

Summary

DOID:0110268 - cataract 22 multiple types

Disease Ontology Definition:A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11.

Synonyms: autosomal recessive congenital nuclear cataract 2, CATCN2, CTRCT22

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: crybb3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012336 - perianal skin

MONDO:0012336 - perianal skin

MIM:

MIM:609741 - CATARACT 22, MULTIPLE TYPES; CTRCT22

MIM:609741 - CATARACT 22, MULTIPLE TYPES; CTRCT22

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), cataract (is_a)