Friedreich ataxia 1
Information
- Disease name
- Friedreich ataxia 1
- Disease ID
- DOID:0111218
- Description
- "A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/10500204, url:https\://www.ncbi.nlm.nih.gov/pubmed/10543403]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04192136 | Recruiting | N/A | NAD+ and Exercise in FA | September 3, 2020 | December 31, 2025 |
- Disase is a (Disease Ontology)
- DOID:12705
- Cross Reference ID (Disease Ontology)
- MESH:C565561
- Cross Reference ID (Disease Ontology)
- MIM:229300
- Exact Synonym (Disease Ontology)
- FA1
- Exact Synonym (Disease Ontology)
- FRDA1