eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | 22q11.2 deletion syndrome |
| Symptom | C0021051|immunodeficiency |
| Sentences | 2 |
| PubMedID- 24198816 | immunodeficiency in digeorge syndrome and options for treating cases with complete athymia. |
| PubMedID- 25368387 | The dgcr14/es2 gene is located in a chromosomal region the loss of which has been associated with digeorge syndrome, a cause of immunodeficiency, heart defects, and skeletal abnormalities. |
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