"DiGeorge Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
| Descriptor ID |
D004062
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| MeSH Number(s) |
C05.660.207.103.500 C14.240.400.021.500 C14.280.400.044.500 C15.604.451.249.500 C16.131.077.019.500 C16.131.240.400.021.500 C16.131.260.019.500 C16.131.482.249.500 C16.131.621.207.103.500 C16.320.180.019.500 C19.642.482.500.500
|
| Concept/Terms |
DiGeorge Syndrome- DiGeorge Syndrome
- Syndrome, DiGeorge
- DiGeorge Sequence
- Familial Third and Fourth Pharyngeal Pouch Syndrome
- Autosomal Dominant Opitz G-Bbb Syndrome
- Autosomal Dominant Opitz G Bbb Syndrome
- Pharyngeal Pouch Syndrome
- Third and Fourth Pharyngeal Pouch Syndrome
- Thymic Aplasia Syndrome
- Catch22
- DiGeorge Anomaly
- Hypoplasia of Thymus and Parathyroids
Velocardiofacial Syndrome- Velocardiofacial Syndrome
- Syndrome, Velocardiofacial
- Sedlackova Syndrome
- Syndrome, Sedlackova
- Shprintzen Syndrome
- Syndrome, Shprintzen
- 22q11.2DS
- VCF Syndrome
- Syndrome, VCF
- Velo-Cardio-Facial Syndrome
- Syndrome, Velo-Cardio-Facial
- Velo Cardio Facial Syndrome
- Deletion 22q11.2 Syndrome
- 22q11.2 Deletion Syndrome
- Deletion Syndrome, 22q11.2
- Shprintzen VCF Syndrome
|
Below are MeSH descriptors whose meaning is more general than "DiGeorge Syndrome".
Below are MeSH descriptors whose meaning is more specific than "DiGeorge Syndrome".
This graph shows the total number of publications written about "DiGeorge Syndrome" by people in this website by year, and whether "DiGeorge Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2001 | 1 | 0 | 1 |
| 2003 | 1 | 0 | 1 |
| 2004 | 1 | 0 | 1 |
| 2006 | 2 | 0 | 2 |
| 2007 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2017 | 2 | 0 | 2 |
| 2018 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "DiGeorge Syndrome" by people in Profiles.
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Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes. Genome Med. 2021 10 29; 13(1):172.
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Essential role of the Crk family-dosage in DiGeorge-like anomaly and metabolic homeostasis. Life Sci Alliance. 2020 02; 3(2).
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Complex Reoperation in a Patient With DiGeorge Syndrome. J Cardiothorac Vasc Anesth. 2020 Jun; 34(6):1655-1662.
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. Hum Mol Genet. 2018 07 15; 27(14):2454-2465.
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Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circ Cardiovasc Genet. 2017 Oct; 10(5).
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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med. 2017 02 23; 376(8):742-754.
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Evidence that duplications of 22q11.2 protect against schizophrenia. Mol Psychiatry. 2014 Jan; 19(1):37-40.
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Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet A. 2012 Nov; 158A(11):2781-7.
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Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome. Am J Med Genet A. 2007 May 15; 143A(10):1082-6.
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Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. Dev Cell. 2006 Jan; 10(1):81-92.