FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term Friedreich ataxia 1 ID (Ontology) DOID:0111218 (Human Disease)
Definition A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1.
Also Known As "FA1" ; "FRDA1"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS      34
Human Disease Models (FBhh)  DOID       1
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 Friedreich ataxia 1      37     22      1
 ameliorates | Friedreich ataxia 1      30       --       --
 exacerbates | Friedreich ataxia 1       1       --       --
 for disease ribbon | Friedreich ataxia 1       --       1       --
 model of | Friedreich ataxia 1       5      1       --
 DOES NOT model | Friedreich ataxia 1       1       --       --
Spanning Tree (Parents/Children)
Only view relationship: 
  autosomal recessive cerebellar ataxia
   |__Friedreich ataxia
       |__Friedreich ataxia 1  60 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a Friedreich ataxia
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "FA1" EXACT OMO:0003012
    "FRDA1" EXACT OMO:0003012
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C565561
MIM:229300