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DO Term : Usher syndrome type 2A [DOID:0110838] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:5440,
  • 276901,
  • OMIM:276901,
  • ICD10CM:H35.5,
  • USH2A,
  • Usher syndrome type IIA
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