OBO ID: DOID:0110575
Term Name: autosomal dominant nonsyndromic deafness 5 Search Ontology:
Synonyms:
  • autosomal dominant deafness 5
  • DFNA5
Definition: An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. (3)
References:
Ontology: Human Disease   ( DOID:0110575 )
Relationships
is a type of:
OTHER autosomal dominant nonsyndromic deafness 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GSDME Deafness, autosomal dominant 5 600994
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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