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Disease Ontology Browser
Potocki-Shaffer syndrome (DOID:0111687)
Alliance: disease page
Synonyms: 11p11.2 deletion; proximal 11p deletion syndrome; PSS
Alt IDs: OMIM:601224, MESH:C538356, NCI:C75456, ORDO:52022, UMLS_CUI:C1832588
Definition: A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.

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