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DO Term : DiGeorge syndrome [DOID:11198] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
188400,
22q11.2 deletion syndrome,
GARD:10299,
Pharyngeal pouch syndrome,
MESH:D004062,
OMIM:188400,
UMLS_CUI:C0012236,
NCI:C2989,
ICD10CM:D82.1,
DiGeorge sequence,
SNOMEDCT_US_2023_03_01:190991007,
DiGeorge's syndrome,
ICD9CM:279.11

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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