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DOID:0111741 - X-linked deafness 5
Disease Ontology 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.
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
Xenbase Genes
:
aifm1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
neuropathy (is_a)