DiGeorge syndrome

Summary

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: tbx1

MIM:

MIM:188400 - digeorge syndrome; dgs

MIM:188400 - digeorge syndrome; dgs

Other Model Organisms: Alliance, 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)