DiGeorge syndrome http://purl.bioontology.org/ontology/MESH/D004062 http://purl.bioontology.org/ontology/SNOMEDCT/767263007 http://purl.obolibrary.org/obo/DOID_11198 http://purl.obolibrary.org/obo/NCIT_C2989 https://en.wikipedia.org/wiki/DiGeorge_syndrome https://www.wikidata.org/wiki/Q525642 22q11.2 deletion syndrome A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Cayler cardiofacial syndrome DiGeorge's syndrome Sedlackova syndrome Shprintzen syndrome Takao syndrome conotruncal anomaly face syndrome pharyngeal pouch syndrome velocardiofacial syndrome microdeletion syndrome