Usher syndrome type 2A
Information
- Disease name
- Usher syndrome type 2A
- Disease ID
- DOID:0110838
- Description
- "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9624053]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0110827
- Cross Reference ID (Disease Ontology)
- GARD:5440
- Cross Reference ID (Disease Ontology)
- ICD10CM:H35.5
- Cross Reference ID (Disease Ontology)
- MIM:276901
- Exact Synonym (Disease Ontology)
- USH2A
- Exact Synonym (Disease Ontology)
- Usher syndrome type IIA