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autosomal recessive nonsyndromic deafness 22
Summary
- Synonym
-
- DFNB22
- autosomal recessive deafness 22
- Definition
- An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12.
- Super Class
- autosomal recessive nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0110480
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q7RTW8 | Otoancorin |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8K561 | Otoancorin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
