has material basis in germline mutation in disease has location TBX1 congenital T-cell immunodeficiency DiGeorge syndrome https://github.com/monarch-initiative/mondo/issues/9097 https://www.malacards.org/card/digeorge_syndrome DiGeorge syndrome type 1 22q11.2 deletion syndrome VCF MESH:D004062 Sphrintzen NANDO:1200688 NCIT:C2989 NANDO:2200712 OMIM:188400 GARD:0015118 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. Di-George syndrome 22q deletion syndrome(s) DiGeorge syndrome ICD9:279.11 GTR:AN1145678 NANDO:1200339 MEDGEN:4297 Shprintzen syndrome MONDO:0008564 UMLS:C0012236 DGS DOID:11198 DGS1 SCTID:77128003 DiGeorge anomaly pharyngeal pouch syndrome ICD10CM:D82.1 DiGeorge's syndrome 22q11.2 deletion syndrome neurocristopathy hereditary neurological disease cardiogenetic disease pharyngeal pouch