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