disease has location congenital T-cell immunodeficiency DiGeorge syndrome https://github.com/monarch-initiative/mondo/issues/10472 https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/digeorge_syndrome MONDO:0008564 UMLS:C0012236 DiGeorge syndrome type 1 MESH:D004062 DOID:11198 DGS NANDO:1200688 DGS1 SCTID:77128003 NCIT:C2989 DiGeorge anomaly NANDO:2200712 pharyngeal pouch syndrome GARD:0015118 OMIM:188400 ICD10CM:D82.1 DiGeorge's 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. Also known as DiGeorge anomaly. This term represents DiGeorge syndrome caused by a 22q11.2 deletion (OMIM:188400). When the DiGeorge syndrome phenotype is caused by a variant in the TBX1 gene without a 22q11.2 deletion, use MONDO:0975891 combined immunodeficiency due to TBX1 deficiency instead. Note that the name DiGeorge syndrome is also used clinically for individuals with features of 22q11.2 deletion syndrome but no identified deletion (PMID:20301696). Di-George syndrome DiGeorge syndrome GTR:AN1145678 ICD9:279.11 NANDO:1200339 MEDGEN:4297 22q11.2 deletion syndrome neurocristopathy hereditary neurological disease cardiogenetic disease pharyngeal pouch