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 )

Relationships
is a type of: autosomal recessive nonsyndromic deafness