has material basis in autosomal dominant disease aniridia 1 MIM:106210 MIM:106210 DOID:0070532 PAX6 gene variation may result in a number of different eye diseases, including foveal hypoplasia 1, that are primarily distinguished by phenotype. These phenotypes may correspond to different variants but there is not definitive evidence at this time to clearly define them all [JAB, 2024-01-23]. disease_ontology An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. aniridia autosomal dominant inheritance