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Metadata
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 BDP1 on chromosome 5q13.2.
https://www.ncbi.nlm.nih.gov/pubmed/24312468
Xrefs

OMIM:618257

Synonyms

autosomal recessive deafness 112 [EXACT]

DFNB112 [EXACT]

Parent Relationships

is_a autosomal recessive nonsyndromic deafness

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