FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term DiGeorge syndrome ID (Ontology) DOID:11198 (Human Disease)
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.
Also Known As "22q11.2 deletion syndrome" ; "DiGeorge sequence" ; "DiGeorge's syndrome" (for all, see Synonyms field below)
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DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       3
Human Disease Models (FBhh)  DOID       1
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 DiGeorge syndrome       3      4      1
 for disease ribbon | DiGeorge syndrome       --       1       --
 model of | DiGeorge syndrome       3      1       --
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal dominant disease_____
chromosomal disease                |
 |__chromosomal deletion syndrome__|
disease                            |
 |__syndrome_______________________|
                                   DiGeorge syndrome  8 rec.
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Is a autosomal dominant disease
chromosomal deletion syndrome
syndrome
Part of
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Synonyms
  • "22q11.2 deletion syndrome" EXACT
    "DiGeorge sequence" EXACT
    "DiGeorge's syndrome" EXACT
    "Pharyngeal pouch syndrome" EXACT
Secondary IDs
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GARD:10299
ICD10CM:D82.1
ICD9CM:279.11
MESH:D004062
MIM:188400
NCI:C2989
SNOMEDCT_US_2023_03_01:190991007
UMLS_CUI:C0012236