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About: fragile X-associated tremor/ataxia syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • fragile X-associated tremor/ataxia syndrome
described by
id
  • DOID:0050879
created_by
  • lschriml
creation_date
  • 2014-08-04T01:52:12Z
database_cross_reference
  • OMIM:300623
has_exact_synonym
  • FXTAS syndrome (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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