loading...| Preferred Name |
DiGeorge syndrome |
| Synonyms |
22q11.2 deletion syndrome |
| Definitions |
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. OMIM mapping confirmed by DO. [SN]. |
| ID |
http://purl.obolibrary.org/obo/DOID_11198 |
| comment |
OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
ICD10CM:D82.1 SNOMEDCT_US_2022_09_01:190991007 GARD:10299 NCI:C2989 ICD9CM:279.11 OMIM:188400 MESH:D004062 UMLS_CUI:C0012236 |
| 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. |
| disease has basis in | |
| has exact synonym |
22q11.2 deletion syndrome DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:11198 |
| in_subset | |
| label |
DiGeorge syndrome |
| notation |
DOID:11198 |
| prefLabel |
DiGeorge syndrome |
| subClassOf |
http://purl.obolibrary.org/obo/DOID_225 |