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DO Term : fragile X-associated tremor/ataxia syndrome [DOID:0050879] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 300623,
  • FXTAS syndrome,
  • OMIM:300623
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Disease

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Ontology

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Ontology Term --> Direct parents





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