Term Name: | autosomal recessive nonsyndromic deafness 53 |
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Synonyms: | autosomal recessive deafness 53, DFNB53 |
Definition: | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. |
Ontology: | Human Disease [DOID:0110509] ( DOID:0110509 ) |