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Disease Ontology Browser
chromosome 16p11.2 deletion syndrome, 593-kb (DOID:0070515)
Alliance: disease page
Synonyms: Proximal 16p11.2 microdeletion syndrome
Alt IDs: OMIM:611913, ORDO:261197, UMLS_CUI:C3150154, UMLS_CUI:C4273657
Definition: A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).

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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12/10/2024
MGI 6.24 		The Jackson Laboratory