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Disease Ontology Browser
X-linked deafness 5 (DOID:0111741)
Alliance: disease page
Synonyms: AUNX1; DFNX5; X-linked auditory neuropathy 1 with peripheral sensory neuropathy; X-linked auditory neuropathy with peripheral sensory neuropathy type 1; X-linked HSAN with deafness
Alt IDs: OMIM:300614, ORDO:139583
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.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory