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Summary Literature (0)
DOID:0050879 - fragile X-associated tremor/ataxia syndrome

Disease Ontology 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.

Synonyms: FXTAS syndrome

Xenbase Genes : fmr1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010382 - DBR1

MIM:
MIM:300623 - FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): X-linked hereditary ataxia (is_a)