DiGeorge syndrome

{
  "id": "MLC-T-CHM-003203",
  "term": "DiGeorge syndrome",
  "field": "Chemistry",
  "definition": "A congenital disorder caused by a deletion on chromosome 22, leading to defective development of several tissues and organs during fetal growth. It is characterized by a range of symptoms, including heart defects, immune system problems due to thymus hypoplasia, hypoparathyroidism, and distinctive facial features. The severity of the syndrome can vary widely among affected individuals.",
  "synonyms": [
    "congenital thymic aplasia",
    "conotruncal anomaly face syndrome",
    "DiGeorge anomaly",
    "Shprintzen syndrome",
    "Strong syndrome",
    "thymic hypoplasia",
    "velocardiofacial syndrome"
  ],
  "subject": "Chemistry and Human Health",
  "see_also": [
    "birth defect",
    "congenital",
    "palate",
    "velopharyngeal insufficiency"
  ],
  "references": [
    "PAC, 2016, 88, 713. 'Glossary of terms used in developmental and reproductive toxicology (IUPAC Recommendations 2016)' on page 743 (https://doi.org/10.1515/pac-2015-1202)"
  ],
  "url": "https://mlchart.com/terminology/chemistry/digeorge-syndrome/"
}