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DOID:0110829 - retinitis pigmentosa-deafness syndrome
Disease Ontology 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.
Synonyms:
Xenbase Genes :
MONDO:0010775 - retinitis pigmentosa-deafness syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee