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DO Term : X-linked deafness 2 [DOID:0111737] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1.
  • synonyms:
  • X-linked deafness type 2,
  • 304400,
  • X-linked mixed conductive and neurosensory hearing loss,
  • conductive deafness 3 with stapes fixation,
  • mixed deafness with perilymphatic gusher,
  • X-linked stapes gusher syndrome,
  • X-linked mixed conductive and sensorineural deafness,
  • DFN3,
  • X-linked mixed conductive and neurosensory deafness,
  • conductive deafness with stapes fixation,
  • OMIM:304400,
  • X-linked sensorineural deafness,
  • DFNX2,
  • Nance deafness,
  • ORDO:383,
  • DOID:0080783,
  • X-linked mixed conductive and sensorineural hearing loss
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Disease

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Ontology Term --> Direct parents





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