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Summary Literature (6)
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

In OMIM:
OMIM:188400 - DIGEORGE SYNDROME; DGS

In Mondo Disease Ontology:
MONDO:0008564 - DiGeorge syndrome

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): autosomal dominant disease (is_a), chromosomal deletion syndrome (is_a), syndrome (is_a)