OBO ID: DOID:0111737
Term Name: X-linked deafness 2 Search Ontology:
Synonyms:
  • conductive deafness 3 with stapes fixation
  • conductive deafness with stapes fixation
  • DFN3
  • DFNX2
  • mixed deafness with perilymphatic gusher
  • Nance deafness
  • X-linked deafness type 2
  • X-linked mixed conductive and neurosensory deafness
  • X-linked mixed conductive and neurosensory hearing loss
  • X-linked mixed conductive and sensorineural deafness
  • X-linked mixed conductive and sensorineural hearing loss
  • X-linked sensorineural deafness
  • X-linked stapes gusher syndrome
Definition: 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. (2)
References:
Ontology: Human Disease   ( DOID:0111737 )
Relationships
is a type of:
OTHER X-linked deafness 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
POU3F4 Deafness, X-linked 2
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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