Term Name: | foveal hypoplasia 1 |
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Synonyms: | foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract, foveal hypoplasia-presenile cataract syndrome, FVH1, O'Donnell-Pappas syndrome |
Definition: | A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. |
Ontology: | Human Disease [DOID:0070530] ( DOID:0070530 ) |