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Human Disease

autosomal dominant nonsyndromic deafness 5

Term ID
DOID:0110575
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
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Genes Involved
Zebrafish Models