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Disease Ontology Browser
fragile X-associated tremor/ataxia syndrome (DOID:0050879)
Alliance: disease page
Synonyms: FXTAS syndrome
Alt IDs: OMIM:300623
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.

Disease References using Mouse Models (10)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory