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Ontology Browser

Term:
fragile X-associated tremor/ataxia syndrome (DOID:0050879)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)
Parent Terms Term With Siblings Child Terms
fragile X syndrome +     
Tremor +     
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
congenital myopathy 16  
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 
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES  
Primary Orthostatic Tremor 
Saul Wilkes Stevenson syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
X-linked cerebellar ataxia +   
X-linked intellectual developmental disorder 109  

Synonyms
Exact Synonyms: FXTAS ;   FXTAS syndrome ;   Fragile X Tremor Ataxia Syndrome
Primary IDs: MESH:C564105
Alternate IDs: MIM:300623
Xrefs: NCI:C126566 ;   ORDO:93256
Definition Sources: http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome "DO" "DO", http://omim.org/entry/300623 "DO" "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/18195136 "DO" "DO"

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