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Human Disease Ontology
Last uploaded:
November 27, 2024
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| Preferred Name | fragile X-associated tremor/ataxia syndrome | |
| Synonyms |
FXTAS syndrome |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050879 |
|
| created_by |
lschriml
|
|
| creation_date |
2014-08-04T01:52:12Z
|
|
| database_cross_reference |
MIM:300623
|
|
| definition |
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.
|
|
| has exact synonym |
FXTAS syndrome
|
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:0050879
|
|
| in_subset | ||
| label |
fragile X-associated tremor/ataxia syndrome
|
|
| notation |
DOID:0050879
|
|
| prefLabel |
fragile X-associated tremor/ataxia syndrome
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|
| subClassOf |
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