FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term autosomal dominant auditory neuropathy 3 ID (Ontology) DOID:0112373 (Human Disease)
Definition An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1.
Also Known As "AUNA3"
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 Genes
 autosomal dominant auditory neuropathy 3       1
 for disease ribbon | autosomal dominant auditory neuropathy 3       1
 model of | autosomal dominant auditory neuropathy 3       1
Spanning Tree (Parents/Children)
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nonsyndromic deafness_______
autosomal dominant disease__|
                            autosomal dominant nonsyndromic deafness
                             |__autosomal dominant auditory neuropathy 3  1 rec.
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Is a autosomal dominant nonsyndromic deafness
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Synonyms
  • "AUNA3" EXACT OMO:0003012
Secondary IDs
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MIM:619832