FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked deafness 3 ID (Ontology) DOID:0111736 (Human Disease)
Definition An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2.
Also Known As "congenital sensorineural X-linked deafness 4" ; "DFN4" ; "DFNX3"
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nonsyndromic deafness_______
X-linked monogenic disease__|
                            X-linked nonsyndromic deafness
                             |__X-linked deafness 3
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Is a X-linked nonsyndromic deafness
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Synonyms
  • "congenital sensorineural X-linked deafness 4" EXACT
    "DFN4" EXACT OMO:0003012
    "DFNX3" EXACT OMO:0003012
Secondary IDs
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MIM:300030