cataract 17 multiple types

Summary

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, autosomal recessive congenital nuclear cataract 3, CTRCT17

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

: crybb1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012688 - cataract 17 multiple types

MONDO:0012688 - cataract 17 multiple types

MIM:

MIM:611544 - CATARACT 17, MULTIPLE TYPES; CTRCT17

MIM:611544 - CATARACT 17, MULTIPLE TYPES; CTRCT17

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

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

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