cataract 3 multiple types

Summary

DOID:0110269 - cataract 3 multiple types

Disease Ontology Definition:A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.

Synonyms: cataract 3 multiple types with or without microcornea, CCA2, congenital Cerulean type cataract 2, CTRCT3

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

: crybb2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011104 - cataract 3 multiple types

MONDO:0011104 - cataract 3 multiple types

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), cataract (is_a)