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 78 ID (Ontology) DOID:0112159 (Human Disease)
Definition An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3.
Also Known As "DFNA78"
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 autosomal dominant nonsyndromic deafness 78       2
 for disease ribbon | autosomal dominant nonsyndromic deafness 78       2
 model of | autosomal dominant nonsyndromic deafness 78       2
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nonsyndromic deafness_______
autosomal dominant disease__|
                            autosomal dominant nonsyndromic deafness
                             |__autosomal dominant nonsyndromic deafness 78  2 rec.
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Is a autosomal dominant nonsyndromic deafness
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Synonyms
  • "DFNA78" EXACT OMO:0003012
Secondary IDs
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MIM:619081