cataract 12 multiple types

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Summary

Literature (0)

DOID:0110239 - cataract 12 multiple types

Disease Ontology Definition:A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22.

Synonyms: CTRCT12

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

: bfsp2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012701 - cataract 12 multiple types

MONDO:0012701 - cataract 12 multiple types

MIM:

MIM:611597 - CATARACT 12, MULTIPLE TYPES; CTRCT12

MIM:611597 - CATARACT 12, MULTIPLE TYPES; CTRCT12

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)