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Usher syndrome, type 2A MeSH Supplementary Concept Data 2023


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 Number
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 Preferred
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