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Summary Literature (2)
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

In OMIM:
OMIM:116200 - CATARACT 1, MULTIPLE TYPES; CTRCT1

In Mondo Disease Ontology:
MONDO:0007285 - cataract 1 multiple types

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gja8

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): cataract (is_a)