About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory