Search Ontology:
Human Disease
autosomal dominant nonsyndromic deafness 2A
- Term ID
- DOID:0110558
- Synonyms
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- autosomal dominant deafness 2A
- DFNA2A
- Definition
- An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. https://www.ncbi.nlm.nih.gov/pubmed/10025409
- References
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- ICD10CM:H90.3
- MIM:600101
- Ontology
- Human Disease ( DOID:0110558 )
- is a type of
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Genes Involved
Zebrafish Models