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 51 ID (Ontology) DOID:0110577 (Human Disease)
Definition An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes.
Also Known As "autosomal dominant deafness 51" ; "chromosome 9q21.11 duplication syndrome" ; "DFNA51"
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nonsyndromic deafness
 |__autosomal dominant nonsyndromic deafness__
autosomal dominant disease                    |
 |__autosomal dominant nonsyndromic deafness__|
chromosomal disease                           |
 |__chromosomal duplication syndrome__________|
                                              autosomal dominant nonsyndromic deafness 51
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Is a autosomal dominant nonsyndromic deafness
chromosomal duplication syndrome
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Synonyms
  • "autosomal dominant deafness 51" EXACT
    "chromosome 9q21.11 duplication syndrome" EXACT
    "DFNA51" EXACT OMO:0003012
Secondary IDs
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ICD10CM:H90.3
MIM:613558