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Summary Literature (0)
DOID:14731 - Weaver syndrome

Disease Ontology 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.

Synonyms: WEAVER-LIKE SYNDROME, Weaver-Williams syndrome

Xenbase Genes : eed, ezh2, nsd1, suz12

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010193 - Weaver syndrome

MIM:
MIM:277590 - WEAVER SYNDROME; WVS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), physical disorder (is_a), syndrome (is_a)