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Disease Ontology Browser
retinitis pigmentosa-deafness syndrome (DOID:0110829)
Alliance: disease page
Alt IDs: OMIM:500004, MESH:D052245, NCI:C126329, ORDO:231183, UMLS_CUI:C1568248
Definition: An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.


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
04/16/2024
MGI 6.23
The Jackson Laboratory