Search Ontology:
Human Disease

Usher syndrome type 2A

Term ID
DOID:0110838
Synonyms
  • USH2A
  • Usher syndrome type IIA
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
References
Ontology
Human Disease   ( DOID:0110838 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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