OBO ID: DOID:0110838
Term Name: Usher syndrome type 2A Search Ontology:
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 Usher syndrome type 2A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PDZD7 {Retinal disease in Usher syndrome type IIA, modifier of} 276901
USH2A Usher syndrome, type 2A 276901
PHENOTYPE No data available

CITATIONS (2)
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