Search Ontology:
Human Disease
X-linked deafness 2
- Term ID
- DOID:0111737
- Synonyms
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- 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
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- MIM:304400
- ORDO:383
- Ontology
- Human Disease ( DOID:0111737 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models