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Echinobase
Summary Literature (0)
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, CTRCT1, CZP1, Duffy linked cataract, cataract 1, multiple types, with or without microcornea, zonular pulverulent cataract 1,

Echinobase Genes :


OMIM:
MIM:116200 - cataract 1, multiple types; ctrct1

Other Model Organisms: AGR, 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)