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Summary Literature (1)
DOID:1928 - Williams-Beuren syndrome


Disease Ontology Definition:A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.

Synonyms: Fanconi Schlesinger syndrome

Xenbase Genes : mlxipl, gtf2i, gtf2ird1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008678 - Williams syndrome

OMIM:
OMIM:194050 - WILLIAMS-BEUREN SYNDROME; WBS

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

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