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DO Term : Tatton-Brown-Rahman syndrome [DOID:0112339] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3.
  • synonyms:
  • TBRS,
  • 615879,
  • DOS,
  • ORDO:404443,
  • DNMT3A overgrowth syndrome,
  • Tatton-Brown-Rahman overgrowth syndrome,
  • OMIM:615879
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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