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retinitis pigmentosa-deafness syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description 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.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0010775:  retinitis pigmentosa-deafness syndrome
GARD:0004684: 
SCTID:57838006: 
UMLS:CN033130: