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Summary Literature (0)
DOID:0070532 - aniridia 1

Disease Ontology Definition:An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common.

Synonyms:

Xenbase Genes : pax6, wt1, elp4



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): aniridia (is_a), autosomal dominant disease (is_a)