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DO Term : Weaver syndrome [DOID:14731] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36.
  • synonyms:
  • GARD:5545,
  • UMLS_CUI:C0220765,
  • GARD:7878,
  • 277590,
  • WEAVER-LIKE SYNDROME,
  • Weaver-Williams syndrome,
  • MESH:C562443,
  • OMIM:277590
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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