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Human Disease
autosomal dominant nonsyndromic deafness 87
- Term ID
- DOID:0070606
- Synonyms
-
- autosomal dominant deafness 87
- DFNA87
- Definition
- An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. https://pubmed.ncbi.nlm.nih.gov/33358777/
- References
- Ontology
- Human Disease ( DOID:0070606 )
- is a type of
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Genes Involved
| Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
|---|---|---|---|---|
| PI4KB | Deafness, autosomal dominant 87 | autosomal dominant nonsyndromic deafness 87 | 620281 |
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Zebrafish Models