| Metadata | |
|---|---|
| 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. https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome |
| 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 autosomal dominant disease is_a chromosomal deletion syndrome is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some gene has material basis in some deletion and has material basis in some chromosome |