autosomal recessive nonsyndromic deafness 53

Term ID

DOID:0110509

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. https://www.ncbi.nlm.nih.gov/pubmed/16033917

References

• ICD10CM:H90.3
• MIM:609706

Ontology

Human Disease   ( DOID:0110509 )