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Usher syndrome type 2

Disease Summary
Associated Targets (6)
Tbio

6


Mondo Description A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.
Disease Ontology Description An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.
Mondo Term and Equivalent IDs
MONDO:0016484:  Usher syndrome type 2
NCIT:C126328: 
Orphanet:231178: 
SCTID:232058008: 
UMLS:C0339534: