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retinitis pigmentosa-deafness syndrome
Summary
- Definition
- An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome.
- Super Class
- Usher syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110829
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13510 | Acid ceramidase | |
| Q96BZ4 | 5'-3' exonuclease PLD4 | |
| Q96EG1 | Arylsulfatase G |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000662 | Nyctalopia |
| HP:0012377 | Hemianopia |
| HP:0000512 | Abnormal electroretinogram |
| HP:0001251 | Ataxia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000738 | Hallucinations |
| HP:0007730 | Iris hypopigmentation |
| HP:0000572 | Visual loss |
| HP:0000375 | Abnormal cochlea morphology |
| HP:0000739 | Anxiety |
