National Cancer Institute Thesaurus

Last uploaded: February 23, 2024
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Preferred Name

Fragile X Tremor/Ataxia Syndrome
Synonyms

Fragile X Tremor/Ataxia Syndrome

FXTAS
Definitions

An X-linked dominant inherited syndrome caused by mutations in the FMR1 gene. It is a late onset disorder, usually occurring after age 50. It affects males more frequently than females. It is characterized by abnormalities in the cerebellum and white matter. It manifests with intention tremor, ataxia, and cognitive disabilities. The symptoms worsen with age.
ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126566
code

C126566
Concept_In_Subset

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258
Contributing_Source

Cellosaurus
DEFINITION

An X-linked dominant inherited syndrome caused by mutations in the FMR1 gene. It is a late onset disorder, usually occurring after age 50. It affects males more frequently than females. It is characterized by abnormalities in the cerebellum and white matter. It manifests with intention tremor, ataxia, and cognitive disabilities. The symptoms worsen with age.
FULL_SYN

Fragile X Tremor/Ataxia Syndrome

FXTAS
label

Fragile X Tremor/Ataxia Syndrome
Preferred_Name

Fragile X Tremor/Ataxia Syndrome
prefixIRI

Thesaurus:C126566
Semantic_Type

Disease or Syndrome
UMLS_CUI

C1839780
subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28193

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C176696

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85865
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