FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term autosomal dominant nonsyndromic deafness 87 ID (Ontology) DOID:0070606 (Human Disease)
Definition An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21.
Also Known As "autosomal dominant deafness 87" ; "DFNA87"
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 autosomal dominant nonsyndromic deafness 87       1
 for disease ribbon | autosomal dominant nonsyndromic deafness 87       1
 model of | autosomal dominant nonsyndromic deafness 87       1
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nonsyndromic deafness_______
autosomal dominant disease__|
                            autosomal dominant nonsyndromic deafness
                             |__autosomal dominant nonsyndromic deafness 87  1 rec.
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Is a autosomal dominant nonsyndromic deafness
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Synonyms
  • "autosomal dominant deafness 87" EXACT
    "DFNA87" EXACT OMO:0003012
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MIM:620281