FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Weaver syndrome ID (Ontology) DOID:14731 (Human Disease)
Definition 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.
Also Known As "WEAVER-LIKE SYNDROME" ; "Weaver-Williams syndrome"
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 Genes
 Weaver syndrome       1
 for disease ribbon | Weaver syndrome       1
 model of | Weaver syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
disease                         |
 |__syndrome____________________|
                                Weaver syndrome  1 rec.
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Is a autosomal dominant disease
syndrome
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Synonyms
  • "WEAVER-LIKE SYNDROME" EXACT
    "Weaver-Williams syndrome" EXACT
Secondary IDs
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GARD:5545
GARD:7878
MESH:C562443
MIM:277590
UMLS_CUI:C0220765