OBO ID: DOID:11198
Term Name: DiGeorge syndrome Search Ontology:
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. (2)
References:
  • GARD:10299
  • ICD10CM:D82.1
  • ICD9CM:279.11
  • MESH:D004062
  • NCI:C2989
  • OMIM:188400
  • SNOMEDCT_US_2021_09_01:190991007
  • UMLS_CUI:C0012236
Ontology: Human Disease   (DOID:11198)
OTHER DiGeorge syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TBX1 DiGeorge syndrome 188400
ZEBRAFISH MODELS
Fish Conditions Citations
tbx1tm208/tm208 standard conditions Piotrowski et al., 2003
PHENOTYPE No data available

CITATIONS (4)