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autosomal dominant nonsyndromic deafness 28

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 GRHL2 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. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progresses to severe loss in the higher frequencies by the fifth decade.
Mondo Term and Equivalent IDs
MONDO:0012083:  autosomal dominant nonsyndromic deafness 28
MESH:C563890: 
UMLS:C1837640: