Medical Subject Headings

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/MESH/D058165
http://purl.bioontology.org/ontology/MESH/D058165
Preferred Name

22q11 Deletion Syndrome

Definitions
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.
Synonyms
Deletion Syndromes, 22q11
Deletion Syndrome, 22q11
22q11 Deletion Syndromes
Syndromes, 22q11 Deletion
Syndrome, 22q11 Deletion
Type http://www.w3.org/2002/07/owl#Class
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