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Metadata
ID DOID:0111635
Name autosomal recessive nonsyndromic deafness 57
Definition An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in PDZD7 on chromosome 10q24.31.
https://www.ncbi.nlm.nih.gov/pubmed/29048736
Xrefs

OMIM:618003

Synonyms

autosomal recessive deafness 57 [EXACT]

DFNB57 [EXACT]

Parent Relationships

is_a autosomal recessive nonsyndromic deafness

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