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Disease Ontology Browser
chromosome 16p11.2 duplication syndrome (DOID:0060430)
Alliance: disease page
Synonyms: proximal 16p11.2 microduplication syndrome; proximal dup(16)(p11.2); proximal trisomy 16p11.2
Alt IDs: OMIM:614671, ICD10CM:Q92.3, ORDO:370079
Definition: A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language.

Disease References using Mouse Models (1)
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