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Human Disease

autosomal dominant nonsyndromic deafness 51

Term ID
DOID:0110577
Synonyms
  • autosomal dominant deafness 51
  • chromosome 9q21.11 duplication syndrome
  • DFNA51
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. https://www.ncbi.nlm.nih.gov/pubmed/20602916
References
Ontology
Human Disease   ( DOID:0110577 )
Relationships
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Genes Involved
Zebrafish Models