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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Fragile X-associated tremor/ataxia syndrome | |
| Synonyms |
FXTAS syndrome |
|
| Definitions |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_93256 |
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| alternative_term |
FXTAS syndrome
|
|
| definition |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
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|
| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=93256 |
|
| has_age_of_onset |
Adult
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|
| has_inheritance |
X-linked dominant
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|
| hasDbXref |
OMIM:300623 UMLS:C1839780 ICD-10:G11.2 MeSH:C564105 ICD-11:8A03.1Y
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|
| label |
Fragile X-associated tremor/ataxia syndrome
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|
| notation |
ORPHA:93256
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|
| part_of |
http://www.orpha.net/ORDO/Orphanet_306712 |
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| prefixIRI |
ORDO:Orphanet_93256
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|
| prefLabel |
Fragile X-associated tremor/ataxia syndrome
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|
| present_in |
United States AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 United States AND has_lifetime_prevalence_average_value : 6.3 AND has_lifetime_prevalence_range : 1-9 / 100 000
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|
| treeView |
http://www.orpha.net/ORDO/Orphanet_306712 |
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| subClassOf |
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