Search Ontology:
Human Disease
Weaver syndrome
- Term ID
- DOID:14731
- Synonyms
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- WEAVER-LIKE SYNDROME
- Weaver-Williams syndrome
- 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. (2)
- References
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- GARD:5545
- GARD:7878
- MESH:C562443
- MIM:277590
- UMLS_CUI:C0220765
- Ontology
- Human Disease ( DOID:14731 )
- is a type of
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Genes Involved
Zebrafish Models