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DO Term : Stocco Dos Santos type X-linked intellectual disability [DOID:0112126] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22.
  • synonyms:
  • Stocco dos Santos X-linked mental retardation syndrome,
  • ORDO:85288,
  • 300434,
  • SDSX,
  • OMIM:300434
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Disease

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Diseases --> Mouse genes

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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents