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autosomal dominant nonsyndromic deafness 64

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene.
Uniprot Description A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
Disease Ontology Description An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24.
Mondo Term and Equivalent IDs
MONDO:0013593:  autosomal dominant nonsyndromic deafness 64
UMLS:C3279948: