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autosomal recessive nonsyndromic deafness 103

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 CLIC5 gene.
Uniprot Description A form of sensorineural deafness with onset in early childhood. Hearing impairment progresses from mild to severe or even profound before the second decade, and is accompanied by vestibular areflexia.
Disease Ontology Description An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21.
Mondo Term and Equivalent IDs
MONDO:0014469:  autosomal recessive nonsyndromic deafness 103
UMLS:C4015050: