MeSH Browser

MeSH Supplementary: Usher syndrome, type 2A
Unique ID: C536490
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536490
Entry Term(s): USH2A Usher syndrome 2a; Usher Syndrome, Type IIA
Registry Numbers: 0
Heading Mapped to: *Usher Syndromes
Frequency: 68
Note: A type of Usher Syndrome characterized by moderate to severe sensorineural hearing loss with normal vestibular response and progressive retinitis pigmentosa. It is the most common form of Usher Syndrome, accounting for 70% of cases and is associated with mutations in the USH2A and PDZD7 genes. OMIM: 276901
Date of Entry: 2010/08/25
Revision Date: 2019/06/19

Usher syndrome, type 2A MeSH Supplementary Concept Data 2025