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autosomal recessive nonsyndromic deafness 53

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 COL11A2 gene.
Uniprot Description A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive 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.
Mondo Term and Equivalent IDs
MONDO:0012333:  autosomal recessive nonsyndromic deafness 53
MESH:C566453: 
UMLS:C1864746: