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autosomal recessive nonsyndromic deafness 74

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene.
Uniprot Description A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound 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 recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14.
Mondo Term and Equivalent IDs
MONDO:0013386:  autosomal recessive nonsyndromic deafness 74
UMLS:C2239351: