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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.
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome, https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
Xrefs

GARD:10299

ICD10CM:D82.1

ICD9CM:279.11

MESH:D004062

NCI:C2989

OMIM:188400

SNOMEDCT_US_2023_03_01:190991007

UMLS_CUI:C0012236

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

is_a chromosomal deletion syndrome

is_a autosomal dominant disease

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