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Disease 22q11 Deletion Syndrome

Name 22q11 Deletion Syndrome
Synonyms 22q11 Deletion Syndromes | Deletion Syndrome, 22q11 | Deletion Syndromes, 22q11 | Syndrome, 22q11 Deletion | Syndromes, 22q11 Deletion
Definition Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Categories Cardiovascular disease | Congenital abnormality | Endocrine system disease | Genetic disease (inborn) | Lymphatic disease | Musculoskeletal disease
MeSH® ID D058165

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
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
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
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
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
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
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
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
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
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
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

Top ↑ Descendants

22q11 Deletion Syndrome Has associated chemicals Has associated genes
View node DiGeorge Syndrome Has associated chemicals Has associated genes