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Disease Ontology Browser
Schaaf-Yang syndrome (DOID:0111715)
Alliance: disease page
Synonyms: MAGEL2-related Prader-Willi-like syndrome; MAGEL2-related PWLS; PWLS; SHFYNG
Alt IDs: OMIM:615547, ORDO:398069, UMLS_CUI:C3809877
Definition: A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2.

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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
11/05/2024
MGI 6.24 		The Jackson Laboratory