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 5 ID (Ontology) DOID:0111741 (Human Disease)
Definition A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1.
Also Known As "AUNX1" ; "DFNX5" ; "X-linked auditory neuropathy 1 with peripheral sensory neuropathy" (for all, see Synonyms field below)
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 Genes
 X-linked deafness 5       1
 for disease ribbon | X-linked deafness 5       1
 model of | X-linked deafness 5       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease_____
peripheral nervous system disease  |
 |__neuropathy_____________________|
                                   X-linked deafness 5  1 rec.
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Is a X-linked recessive disease
neuropathy
Part of
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Synonyms
  • "AUNX1" EXACT OMO:0003012
    "DFNX5" EXACT OMO:0003012
    "X-linked auditory neuropathy 1 with peripheral sensory neuropathy" EXACT
    "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" EXACT
    "X-linked HSAN with deafness" EXACT
Secondary IDs
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MIM:300614
ORDO:139583