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 1 ID (Ontology) DOID:0111739 (Human Disease)
Definition An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3.
Also Known As "DFN2" ; "DFNX1" ; "X-linked sensorineural congenital deafness 2"
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 Genes
 X-linked deafness 1       1
 for disease ribbon | X-linked deafness 1       1
 model of | X-linked deafness 1       1
Spanning Tree (Parents/Children)
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nonsyndromic deafness_______
X-linked monogenic disease__|
                            X-linked nonsyndromic deafness
                             |__X-linked deafness 1  1 rec.
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Is a X-linked nonsyndromic deafness
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Synonyms
  • "DFN2" EXACT OMO:0003012
    "DFNX1" EXACT OMO:0003012
    "X-linked sensorineural congenital deafness 2" EXACT
Secondary IDs
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MIM:304500