Usher syndrome type 1
Information
- Disease name
- Usher syndrome type 1
- Disease ID
- DOID:0110826
- Description
- "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa." [url:https\://ghr.nlm.nih.gov/condition/usher-syndrome, url:https\://www.ncbi.nlm.nih.gov/books/NBK1265/, url:https\://www.ncbi.nlm.nih.gov/pubmed/2909824]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050439
- Cross Reference ID (Disease Ontology)
- ICD10CM:H35.5
- Cross Reference ID (Disease Ontology)
- MIM:276900
- Cross Reference ID (Disease Ontology)
- ORDO:231169
- Exact Synonym (Disease Ontology)
- US1
- Exact Synonym (Disease Ontology)
- USH1