cataract 1 multiple types

Summary

DOID:0110231 - cataract 1 multiple types

Disease Ontology Definition:A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.

Synonyms: CAE1, cataract 1, multiple types, with or without microcornea, CTRCT1, CZP1, Duffy linked cataract, zonular pulverulent cataract 1

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

: gja8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007285 - presumptive paraxial mesoderm

MONDO:0007285 - presumptive paraxial mesoderm

MIM:

MIM:116200 - CATARACT 1, MULTIPLE TYPES; CTRCT1

MIM:116200 - CATARACT 1, MULTIPLE TYPES; CTRCT1

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)