Term Name: | autosomal recessive nonsyndromic deafness 114 |
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Synonyms: | autosomal recessive deafness 114, DFNB114 |
Definition: | An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. |
Ontology: | Human Disease [DOID:0111642] ( DOID:0111642 ) |