| Metadata | |
|---|---|
| ID | DOID:0111218 |
| Name | Friedreich ataxia 1 |
| Definition | A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. https://www.ncbi.nlm.nih.gov/pubmed/10500204, https://www.ncbi.nlm.nih.gov/pubmed/10543403 |
| Xrefs | |
| Synonyms |
FA1 [EXACT] FRDA1 [EXACT] |
| Parent Relationships |
is_a Friedreich ataxia |