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:0008678 - Williams syndrome|
|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