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autosomal dominant nonsyndromic deafness 79
Summary
- Synonym
-
- DFNA79
- Definition
- An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22.
- Super Class
- autosomal dominant nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0112160
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000408 | Progressive sensorineural hearing impairment |
| HP:0003581 | Adult onset |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001751 | Abnormal vestibular function |
