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General Information
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| Term |
X-linked deafness 2 |
ID (Ontology) |
DOID:0111737 (Human Disease) |
| 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. |
| Also Known As |
"conductive deafness 3 with stapes fixation" ; "conductive deafness with stapes fixation" ; "DFN3" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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X-linked deafness 2 | 1 | for disease ribbon | X-linked deafness 2 | 1 | model of | X-linked deafness 2 | 1 |
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Relationships