Search Ontology:
Human Disease

autosomal dominant nonsyndromic deafness 78

Term ID
DOID:0112159
Synonyms
  • DFNA78
Definition
An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. https://pubmed.ncbi.nlm.nih.gov/32294086/
References
Ontology
Human Disease   ( DOID:0112159 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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