Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C564105 http://purl.bioontology.org/ontology/MESH/C564105
Preferred Name	Fragile X Tremor Ataxia Syndrome
Synonyms	FXTAS Fragile X Tremor Ataxia Syndrome Fragile X-Associated Tremor Ataxia Syndrome Fxtas
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FXTAS Fragile X Tremor Ataxia Syndrome Fragile X-Associated Tremor Ataxia Syndrome Fxtas
prefLabel	Fragile X Tremor Ataxia Syndrome
Scope Statement	An ataxia caused by expanded TRINUCLEOTIDE REPEATS in the FMR1 gene on the X chromosome. Occurs predominantly in men over 50 years of age. In addition to ataxia, TREMOR, brain atrophy, and DEMENTIA also occur. OMIM: 300623
type	http://www.w3.org/2002/07/owl#Class
tui	T047
HM	D014202 D001259 D005600
SC	3
TERMUI	T000961640 T829088 T000866576 T841450
TH	OMIM (2013) NLM (2019) GHR (2014)
MMR	20190620
notation	C564105
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C1839780
MeSH Frequency	226
DSC	20121105
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D001259 http://purl.bioontology.org/ontology/MESH/D014202 http://purl.bioontology.org/ontology/MESH/D005600
MDA	20121105

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