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Disease Ontology Browser
retinitis pigmentosa 101 (DOID:0061299)
Alliance: disease page
Alt IDs: OMIM:618348
Definition: A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12.


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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last database update
04/07/2026
MGI 6.24
The Jackson Laboratory