fragile X-associated tremor/ataxia syndrome

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fmr1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010382 - fragile X-associated tremor/ataxia syndrome

MONDO:0010382 - fragile X-associated tremor/ataxia syndrome

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): X-linked hereditary ataxia (is_a)