Term Name: DiGeorge syndrome
Synonyms: 22q11.2 deletion syndrome, DiGeorge sequence, DiGeorge's syndrome, Pharyngeal pouch 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.
Ontology: Human Disease [DOID:11198]   ( DOID:11198 )

Relationships
is a type of: autosomal dominant disease chromosomal deletion syndrome syndrome