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- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- 22Q11 Deletion Syndrome
- Standard Disease Name
- 22q11 deletion syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- D058165
- OMIM ID
- No data
- UMLS ID
- C2936346
- HPO ID
- No data
Description and Extensions
- Description
- MSH2017_2016_08_12: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.