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About: X-linked intellectual developmental disorder 109     Goto   Sponge   Distinct   Permalink

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AttributesValues
type
subClassOf
label
  • X-linked intellectual developmental disorder 109 (en)
described by
id
  • DOID:0080984
database_cross_reference
  • GARD:2378
  • OMIM:309548
  • ORDO:100973
has_exact_synonym
  • Fragile XE syndrome
  • fragile site on chromosome Xq28
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2, either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion.
is topic of
is annotatedSource of
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