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autosomal recessive nonsyndromic deafness 18B

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 OTOG gene.
Uniprot Description A form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow "U" or slightly downsloping shaped audiograms.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15.
Mondo Term and Equivalent IDs
MONDO:0013985:  autosomal recessive nonsyndromic deafness 18B
UMLS:C3554163: