Term Name: X-linked deafness 2
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.
Ontology: Human Disease [DOID:0111737]   ( DOID:0111737 )

Relationships
is a type of: X-linked nonsyndromic deafness