You are using an outdated browser. Please upgrade your browser to improve your experience.

autosomal recessive nonsyndromic deafness 89

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene.
Uniprot Description A form of non-syndromic deafness characterized by bilateral, prelingual, moderate to severe hearing loss affecting all frequencies.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23.
Mondo Term and Equivalent IDs
MONDO:0013489:  autosomal recessive nonsyndromic deafness 89
UMLS:C3151351: