Metadata | |
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ID | DOID:11198 |
Name | DiGeorge syndrome |
Definition | A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome, https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome |
Xrefs |
SNOMEDCT_US_2023_03_01:190991007 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
22q11.2 deletion syndrome [EXACT] DiGeorge sequence [EXACT] DiGeorge's syndrome [EXACT] Pharyngeal pouch syndrome [EXACT] |
Parent Relationships |
is_a syndrome |