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Summary Literature (0)
DOID:0070530 - foveal hypoplasia 1

Disease Ontology 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.

Synonyms: FVH1, O'Donnell-Pappas syndrome, foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract, foveal hypoplasia-presenile cataract syndrome,

Xenbase Genes : pax6



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), retinal disease (is_a)