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Metadata
ID DOID:0110838
Name Usher syndrome type 2A
Definition An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.
https://www.ncbi.nlm.nih.gov/pubmed/9624053
Xrefs

GARD:5440

ICD10CM:H35.5

OMIM:276901

Synonyms

USH2A [EXACT]

Usher syndrome type IIA [EXACT]

Parent Relationships

is_a Usher syndrome type 2

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