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autosomal dominant nonsyndromic deafness 2B

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 GJB3 gene.
Uniprot Description A form of non-syndromic sensorineural deafness characterized by progressive high frequency hearing loss in adulthood, with milder expression in females.
Mondo Term and Equivalent IDs
MONDO:0012976:  autosomal dominant nonsyndromic deafness 2B
MESH:C567214: 
UMLS:C2675236: