|
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,
Echinobase Genes :
MIM:300623 - fragile x tremor/ataxia syndrome; fxtas |
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)