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Summary Literature (7)
DOID:11198 - DiGeorge syndrome


Disease Ontology 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.

Synonyms: 22q11.2 deletion syndrome, DiGeorge sequence, DiGeorge sequence (disorder), DiGeorge's syndrome, Pharyngeal pouch syndrome

Xenbase Genes : tbx1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008564 - DiGeorge syndrome

OMIM:
OMIM:188400 - DIGEORGE SYNDROME; DGS

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), chromosomal deletion syndrome (is_a), syndrome (is_a)