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DOID:0111737 - X-linked deafness 2
Disease Ontology 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.
Synonyms: DFN3, DFNX2, 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 stapes gusher syndrome, conductive deafness 3 with stapes fixation, conductive deafness with stapes fixation, mixed deafness with perilymphatic gusher,
Xenbase Genes
:
pou3f4,
gjb2
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked nonsyndromic deafness (is_a)