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About: syndromic X-linked intellectual disability Chudley-Schwartz type     Goto   Sponge   Distinct   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 Chudley-Schwartz type
described by
id
  • DOID:0060819
database_cross_reference
  • OMIM:300861
has_exact_synonym
  • MRXSCS (en)
  • mental retardation, X-linked, syndromic, Chudley-Schwartz type (en)
  • X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23.
is topic of
is annotatedSource of
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