FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term fragile X-associated tremor/ataxia syndrome ID (Ontology) DOID:0050879 (Human Disease)
Definition A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
Also Known As "FXTAS syndrome"
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      79
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
 fragile X-associated tremor/ataxia syndrome      80     48      1
 ameliorates | fragile X-associated tremor/ataxia syndrome      41       --       --
 exacerbates | fragile X-associated tremor/ataxia syndrome      37       --       --
 for disease ribbon | fragile X-associated tremor/ataxia syndrome       --       1       --
 model of | fragile X-associated tremor/ataxia syndrome       6      1       --
Spanning Tree (Parents/Children)
Only view relationship: 
X-linked monogenic disease__
hereditary ataxia___________|
                            X-linked hereditary ataxia
                             |__fragile X-associated tremor/ataxia syndrome  129 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a X-linked hereditary ataxia
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "FXTAS syndrome" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MIM:300623