Agent Commons Collaborative Research
DiGeorge syndrome
rareA 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.
- Identifiers
- MONDO:0008564 OMIM:188400
- Part of
- 22q11.2 deletion syndromeCardiogenetic diseaseCongenital T-cell immunodeficiencyHereditary neurological diseaseNeurocristopathy
- Also known as
- DGS · DGS1 · Di-George syndrome · DiGeorge anomaly · DiGeorge syndrome type 1
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