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Disease Ontology Browser
foveal hypoplasia 1 (DOID:0070530)
Alliance: disease page
Synonyms: foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract; foveal hypoplasia-presenile cataract syndrome; FVH1; O'Donnell-Pappas syndrome
Alt IDs: OMIM:136520
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory