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Summary Literature (4)
DOID:11198 - DiGeorge syndrome


Disease Ontology Definition:A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.

Synonyms: DiGeorge sequence (disorder); DiGeorge's syndrome; Pharyngeal pouch syndrome

Referenced OMIM:
OMIM:188400 - DIGEORGE SYNDROME; DGS

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : tbx1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): chromosomal deletion syndrome (is_a), syndrome (is_a)


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