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Disease Ontology Browser
retinitis pigmentosa 108 (DOID:0051101)
Alliance: disease page
Alt IDs: OMIM:621637
Definition: A retinitis pigmentosa that is characterized by onset of symptoms later in life (fourth to fifth decades) and that has_material_basis_in homozygous or compound heterozygous mutation in the SAXO6 gene on chromosome 12q15. Most affected individuals experience photophobia and reduced visual acuity, and funduscopy shows the typical changes of RP, with optic disc pallor, retinal vessel attenuation, and bone-spicule pigmentary changes in the midperiphery.

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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
07/14/2026
MGI 6.24 		The Jackson Laboratory