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
|OMIM:188400 - DIGEORGE SYNDROME; DGS|
|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