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loading...| Preferred Name | fragile X-associated tremor/ataxia syndrome | |
| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0050879 |
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| 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. |
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| imported from | ||
| label |
fragile X-associated tremor/ataxia syndrome |
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| prefixIRI |
DOID:0050879 |
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| prefLabel |
fragile X-associated tremor/ataxia syndrome |
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| subClassOf |
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