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Disease Ontology Browser
DiGeorge syndrome (DOID:11198)
Alliance: disease page
Synonyms: 22q11.2 deletion syndrome; DiGeorge sequence; DiGeorge's syndrome; Pharyngeal pouch syndrome
Alt IDs: OMIM:188400, ICD10CM:D82.1, ICD9CM:279.11, MESH:D004062, NCI:C2989, UMLS_CUI:C0012236
Definition: A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.

Disease References using Mouse Models (31)

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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MGI 6.20
The Jackson Laboratory