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DO Term : X-linked intellectual disability-short stature-overweight syndrome [DOID:0112056] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25.
  • synonyms:
  • X-linked mental retardation 12,
  • X-linked mental retardation 35,
  • 300957,
  • OMIM:300957,
  • MRX12,
  • ORDO:457240,
  • MRX35
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents