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Disease Ontology Browser
chromosome 16p12.2-p11.2 deletion syndrome (DOID:0060400)
Alliance: disease page
Synonyms: 16p11.2-p12.2 microdeletion syndrome; 16p11.2p12.2 microdeletion syndrome
Alt IDs: OMIM:613604, ICD10CM:Q93.5, ORDO:261211
Definition: A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment.


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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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last database update
12/10/2024
MGI 6.24
The Jackson Laboratory