FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant nonsyndromic deafness 2A ID (Ontology) DOID:0110558 (Human Disease)
Definition An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2.
Also Known As "autosomal dominant deafness 2A" ; "DFNA2A"
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 Genes
 autosomal dominant nonsyndromic deafness 2A       1
 for disease ribbon | autosomal dominant nonsyndromic deafness 2A       1
 model of | autosomal dominant nonsyndromic deafness 2A       1
Spanning Tree (Parents/Children)
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nonsyndromic deafness_______
autosomal dominant disease__|
                            autosomal dominant nonsyndromic deafness
                             |__autosomal dominant nonsyndromic deafness 2A  1 rec.
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Is a autosomal dominant nonsyndromic deafness
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Synonyms
  • "autosomal dominant deafness 2A" EXACT
    "DFNA2A" EXACT OMO:0003012
Secondary IDs
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ICD10CM:H90.3
MIM:600101