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About: syndromic X-linked intellectual disability Abidi 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 Abidi type
described by
id
  • DOID:0060818
database_cross_reference
  • MESH:C535556
  • OMIM:300262
  • ORDO:85273
  • UMLS_CUI:C1846056
has_exact_synonym
  • MRXSAB (en)
  • mental retardation, X-linked syndromic, Abidi type (en)
  • syndromic X-linked mental retardation Abidi type (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2.
is topic of
is annotatedSource of
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