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Usher syndrome type 2
Summary
- Synonym
-
- USH2
- Definition
- An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa.
- Super Class
- Usher syndrome
External Links
- Disease Ontology
- DOID:0110827
- Mondo Disease Ontology
- MeSH
- NCI Thesaurus
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13510 | Acid ceramidase | |
| Q96BZ4 | 5'-3' exonuclease PLD4 | |
| Q96EG1 | Arylsulfatase G |
