Term Name: | autosomal recessive nonsyndromic deafness 111 |
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Synonyms: | autosomal recessive deafness 111, DFNB111 |
Definition: | An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. |
Ontology: | Human Disease [DOID:0111640] ( DOID:0111640 ) |