Fragile X Tremor/Ataxia Syndrome

Preferred Label : Fragile X Tremor/Ataxia Syndrome;

NCIt synonyms : FXTAS;

NCIt 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.;

Details

Origin ID

C126566;

UMLS CUI

C1839780;

Currated CISMeF NLP mapping
- Fragile X associated tremor ataxia syndrome (disorder) [SNOMED CT concept]
- Fragile X tremor/ataxia syndrome [OMIM Phenotype]
- Fragile X-associated tremor/ataxia syndrome [PASCAL descriptor]
- Fragile X-associated tremor/ataxia syndrome [ORDO Disease]
- fragile X associated tremor/ataxia syndrome [Disease (Nov.)]
- fragile X tremor ataxia syndrome [MeSH concept]
- fragile X tremor ataxia syndrome [MeSH Supplementary Concept]
- fragile X-associated tremor/ataxia syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fragile X associated tremor ataxia syndrome (disorder) [SNOMED CT concept]
- Fragile X tremor/ataxia syndrome [OMIM Phenotype]
- Fragile X-associated tremor/ataxia syndrome [ORDO Disease]
- Fragile X-associated tremor/ataxia syndrome [PASCAL descriptor]
- fragile X associated tremor/ataxia syndrome [Disease (Nov.)]
- fragile X tremor ataxia syndrome [MeSH Supplementary Concept]
- fragile X tremor ataxia syndrome [MeSH concept]
- fragile X-associated tremor/ataxia syndrome [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- FMR1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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