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Disease DiGeorge Syndrome

Name DiGeorge Syndrome
Synonyms 22q11.2 Deletion Syndrome | 22q11.2DS | Autosomal Dominant Opitz G Bbb Syndrome | Autosomal Dominant Opitz G-Bbb Syndrome | Catch22 | CATCH22, INCLUDED | CHROMOSOME 22q11.2 DELETION SYNDROME | Conotruncal Anomaly Face Syndrome | Conotruncal Anomaly Face Syndrome (CTAF) | Deletion 22q11.2 Syndrome | Deletion Syndrome, 22q11.2 | DGCR, INCLUDED | DGS | DiGeorge Anomaly | DiGeorge Sequence | Familial Third and Fourth Pharyngeal Pouch Syndrome | Hypoplasia of Thymus and Parathyroids | Pharyngeal Pouch Syndrome | Sedlackova Syndrome | Shprintzen Syndrome | Shprintzen VCF Syndrome | Syndrome, DiGeorge | Syndrome, Sedlackova | Syndrome, Shprintzen | Syndrome, VCF | Syndrome, Velocardiofacial | Syndrome, Velo-Cardio-Facial | TAKAO VCF SYNDROME, INCLUDED | Third and Fourth Pharyngeal Pouch Syndrome | THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED | Thymic Aplasia Syndrome | VCFS | VCF Syndrome | Velocardiofacial Syndrome | Velo Cardio Facial Syndrome | Velo-Cardio-Facial Syndrome
Definition 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.
Categories Cardiovascular disease | Congenital abnormality | Endocrine system disease | Genetic disease (inborn) | Lymphatic disease | Musculoskeletal disease
MeSH® ID D004062
OMIM® IDs 188400 | 192430
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes
2. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes
3. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Diseases Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes
4. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Lymphatic Abnormalities Has associated chemicals Has associated genes 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Heart Defects, Congenital Has associated chemicals Has associated genes Has associated exposure references 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes
8. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Lymphatic Abnormalities Has associated chemicals Has associated genes 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes
9. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes
10. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes
11. DiseasesEndocrine System Diseases Has associated chemicals Has associated genes Has associated exposure references Parathyroid Diseases Has associated chemicals Has associated genes Hypoparathyroidism Has associated chemicals Has associated genes 22q11 Deletion Syndrome Has associated chemicals Has associated genes DiGeorge Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

DiGeorge Syndrome Has associated chemicals Has associated genes
  Chromosome 22q11.2 Deletion Syndrome, Distal
  Chromosome 22q11.2 Microduplication Syndrome
  Digeorge Syndrome-Velocardiofacial Syndrome Complex 2 Has associated genes
  Takao VCF Syndrome