Search Ontology:
Human Disease
autosomal dominant nonsyndromic deafness 3A
- Term ID
- DOID:0110564
- Synonyms
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- autosomal dominant deafness 3A
- DFNA3A
- Definition
- An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/9139825
- References
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- ICD10CM:H90.3
- MIM:601544
- Ontology
- Human Disease ( DOID:0110564 )
- is a type of
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Genes Involved
Zebrafish Models