| Term Name: | autosomal recessive nonsyndromic deafness 53 |
|---|---|
| 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 ) |