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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110827
NCIT:C126328
Orphanet:231178
SCTID:232058008
UMLS:C0339534
MONDO:0016484
High level summary of knowledge for a disease, including descriptions and datasource references.