| Metadata | |
|---|---|
| ID | DOID:0110509 |
| Name | autosomal recessive nonsyndromic deafness 53 |
| 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 |
| Xrefs | |
| Synonyms |
autosomal recessive deafness 53 [EXACT] DFNB53 [EXACT] |
| Parent Relationships |