Ontology Browser

Term:
fragile X-associated tremor/ataxia syndrome (DOID:0050879)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2)
Parent Terms Term With Siblings Child Terms
fragile X syndrome +     
Tremor +     
essential tremor +   
fragile X-associated tremor/ataxia syndrome  
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. (DO)
Geniospasm 
Primary Orthostatic Tremor 
Primary Ovarian Insufficiency, Fragile X-Associated  
Saul Wilkes Stevenson syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 

Synonyms
Exact Synonyms: FXTAS ;   FXTAS syndrome ;   Fragile X Tremor Ataxia Syndrome
Primary IDs: MESH:C564105
Alternate IDs: OMIM:300623 ;   RDO:0013175 ;   RDO:0015891
Definition Sources: http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome, http://omim.org/entry/300623, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256, https://www.ncbi.nlm.nih.gov/pubmed/18195136

paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.