cataract 46 juvenile-onset

Summary

DOID:0110243 - cataract 46 juvenile-onset

Disease Ontology Definition:A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21.

Synonyms: juvenilae cataract Hutterite type, CTRCT46

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

: gcnt2.2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008925 - cataract 46 juvenile-onset

MONDO:0008925 - cataract 46 juvenile-onset

MIM:

MIM:212500 - CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY; CTRCT46

MIM:212500 - CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY; CTRCT46

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

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

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