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Metadata
ID	DOID:0111639
Name	autosomal recessive nonsyndromic deafness 109
Definition	An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. https://www.ncbi.nlm.nih.gov/pubmed/29107558
Xrefs	OMIM:618013
Synonyms	autosomal recessive deafness 109 [EXACT] DFNB109 [EXACT]
Parent Relationships	is_a autosomal recessive nonsyndromic deafness