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Disease Ontology Browser
Stargardt disease 1 (DOID:0061241)
Alliance: disease page
Alt IDs: OMIM:248200
Definition: A stargardt disease that is characterized by juvenile-onset macular dystrophy with rapid central visual impairment, progressive bilateral atrophy of the foveal retinal pigment epithelium, and the frequent appearance of yellowish flecks, defined as lipofuscin deposits, around the macula and/or in the central and near-peripheral areas of the retina and has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.

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
01/28/2026
MGI 6.24 		The Jackson Laboratory