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autosomal dominant nonsyndromic deafness 77
Summary
- Synonym
-
- DFNA77
- Definition
- An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11.
- Super Class
- autosomal dominant nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0112168
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P33527 | Multidrug resistance-associated protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000360 | Tinnitus |
| HP:0003581 | Adult onset |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0011390 | Abnormal inner ear morphology |
| HP:0000407 | Sensorineural hearing impairment |
