| Metadata | |
|---|---|
| ID | DOID:0111637 |
| PURL | http://purl.obolibrary.org/obo/DOID_0111637 Copy |
| Name | autosomal recessive nonsyndromic deafness 112 |
| Definition | An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. https://www.ncbi.nlm.nih.gov/pubmed/24312468 |
| Xrefs | |
| Synonyms |
autosomal recessive deafness 112 [EXACT] DFNB112 [EXACT] |
| Parent Relationships |