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autosomal dominant nonsyndromic deafness 69

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 KITLG gene.
Uniprot Description An autosomal dominant form of non-syndromic, sensorineural deafness characterized by inability to hear affecting one ear. Some patients suffers from asymmetric, bilateral hearing loss.
Disease Ontology Description An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21.
Mondo Term and Equivalent IDs
MONDO:0014738:  autosomal dominant nonsyndromic deafness 69
UMLS:C4225241: