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 109 ID (Ontology) DOID:0111639 (Human Disease)
Definition An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1.
Also Known As "autosomal recessive deafness 109" ; "DFNB109"
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 autosomal recessive nonsyndromic deafness 109       1
 for disease ribbon | autosomal recessive nonsyndromic deafness 109       1
 model of | autosomal recessive nonsyndromic deafness 109       1
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nonsyndromic deafness________
autosomal recessive disease__|
                             autosomal recessive nonsyndromic deafness
                              |__autosomal recessive nonsyndromic deafness 109  1 rec.
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Is a autosomal recessive nonsyndromic deafness
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Synonyms
  • "autosomal recessive deafness 109" EXACT
    "DFNB109" EXACT OMO:0003012
Secondary IDs
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MIM:618013