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22q11.2 deletion syndrome

Disease Summary
Associated Targets (16)
Tbio

15

Tclin

1


Explore Associated Targets
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0018923:  22q11.2 deletion syndrome
GARD:0010299: 
Orphanet:567: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found