Metadata | |
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ID | DOID:0111637 |
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 |