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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease 22q11.2 deletion syndrome
Comorbidity C1744558|t-cell deficiency
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PubMedID- 24198816 Digeorge syndrome (dgs) was first described in the 1960’s and classically comprises t-cell deficiency (due to thymic hypoplasia), hypoparathyroidism, cardiac malformations, and facial abnormalities.

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