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Usher syndrome type 2A

Go to external page http://purl.obolibrary.org/obo/DOID_0110838


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

Usher syndrome type 2A

Synonyms
  • USH2A
  • Usher syndrome type IIA
database cross reference
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disease_ontology

id

DOID:0110838