FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal recessive nonsyndromic deafness 57 ID (Ontology) DOID:0111635 (Human Disease)
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 the PDZD7 gene on chromosome 10q24.31.
Also Known As "autosomal recessive deafness 57" ; "DFNB57"
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 Genes
 autosomal recessive nonsyndromic deafness 57       2
 for disease ribbon | autosomal recessive nonsyndromic deafness 57       2
 model of | autosomal recessive nonsyndromic deafness 57       2
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nonsyndromic deafness________
autosomal recessive disease__|
                             autosomal recessive nonsyndromic deafness
                              |__autosomal recessive nonsyndromic deafness 57  2 rec.
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Is a autosomal recessive nonsyndromic deafness
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Synonyms
  • "autosomal recessive deafness 57" EXACT
    "DFNB57" EXACT OMO:0003012
Secondary IDs
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MIM:618003