Term Name: | DiGeorge syndrome |
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Synonyms: | 22q11.2 deletion syndrome, DiGeorge sequence, DiGeorge's syndrome, Pharyngeal pouch syndrome |
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. |
Ontology: | Human Disease [DOID:11198] ( DOID:11198 ) |