OBO ID: DOID:0110577
Term Name: autosomal dominant nonsyndromic deafness 51 Search Ontology:
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
is a type of:
OTHER autosomal dominant nonsyndromic deafness 51 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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