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About: syndromic X-linked intellectual disability Lubs type     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
  • syndromic X-linked intellectual disability Lubs type
described by
id
  • DOID:0060799
database_cross_reference
  • MESH:C537723
  • NCI:C126747
  • OMIM:300260
  • ORDO:85281
  • SNOMEDCT_US_2021_09_01:702816000
  • UMLS_CUI:C1846058
has_exact_synonym
  • mental retardation, X-linked, with recurrent respiratory infections (en)
  • Lubs X-linked mental retardation syndrome (en)
  • MECP2 duplication syndrome (en)
  • MRXSL (en)
  • mental retardation, X-linked, syndromic, Lubs type (en)
  • X-linked intellectual disability-hypotonia-recurrent Infections syndrome (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
is topic of
is annotatedSource of
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