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autosomal dominant auditory neuropathy 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene.
Uniprot Description A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem.
Mondo Term and Equivalent IDs
MONDO:0012196:  autosomal dominant auditory neuropathy 1
MESH:C563790: 
UMLS:C1836743: