loading...| Preferred Name | DiGeorge syndrome | |
| Synonyms |
DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome 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]. |
|
| alternative label |
DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome 22q11.2 deletion syndrome |
|
| database_cross_reference |
UMLS_CUI:C0012236 ICD9CM:279.11 MESH:D004062 ICD10CM:D82.1 SNOMEDCT_US_2023_03_01:190991007 OMIM:188400 GARD:10299 NCI:C2989 |
|
| 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. OMIM mapping confirmed by DO. [SN]. |
|
| disease has basis in | ||
| has exact synonym |
DiGeorge sequence DiGeorge's syndrome Pharyngeal pouch syndrome 22q11.2 deletion syndrome |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:11198 |
|
| in_subset | ||
| label |
DiGeorge syndrome |
|
| notation |
DOID:11198 |
|
| note |
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]. |
|
| preferred label |
DiGeorge syndrome |
|
| prefLabel |
DiGeorge syndrome |
|
| subClassOf |
http://purl.obolibrary.org/obo/DOID_0050736 |