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Disease Ontology Browser
Williams-Beuren syndrome (DOID:1928)
Alliance: disease page
Synonyms: Fanconi Schlesinger syndrome; WBS
Alt IDs: OMIM:194050, ICD10CM:Q93.82, MESH:D018980, NCI:C85232, UMLS_CUI:C0175702
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.

Disease References using Mouse Models (21)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory