OBO ID: DOID:0112159
Term Name: autosomal dominant nonsyndromic deafness 78 Search Ontology:
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 autosomal dominant nonsyndromic deafness 78 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC12A2 Deafness, autosomal dominant 78 619081
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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