disease arises from structure disease arises from alteration in structure 22q11.2 (Human) syndrome caused by partial chromosomal deletion congenital nervous system disorder immune system disorder heart disorder multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome obsolete syndromic anorectal malformation 22q11.2 deletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://github.com/monarch-initiative/mondo/issues/6747 22q11DS DiGeorge syndrome DECIPHER:16 NORD:853 icd11.foundation:1868156761 DiGeorge sequence GARD:0010299 VCFS Cayler cardiofacial syndrome NANDO:1200688 MONDO:0018923 conotruncal anomaly face syndrome Shprintzen syndrome monosomy 22q11 Chromosome 22q11.2 Deletion Syndrome Orphanet:567 Takao syndrome NANDO:1200339 Sedlackova syndrome microdeletion 22q11.2 MedDRA:10012979 catch 22 NANDO:2200712 velocardiofacial syndrome MedDRA:10066430 22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. chromosome 22q deletion