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DO Term : non-syndromic X-linked intellectual disability 104 [DOID:0112018] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2.
  • synonyms:
  • 300983,
  • MRX104,
  • OMIM:300983,
  • X-linked mental retardation 104
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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