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autosomal recessive nonsyndromic deafness 84B

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 OTOGL gene.
Uniprot Description A form of non-syndromic deafness characterized by congenital, non-progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21.
Mondo Term and Equivalent IDs
MONDO:0013984:  autosomal recessive nonsyndromic deafness 84B
UMLS:C3554159: