Digeorge Syndrome
Disease ID: disease_node_2526
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| Dbxref | ICD10CM:Q93.81, ICD9CM:758.32, MESH:D004062, MIM:192430, SNOMEDCT_US_2023_03_01:205642004, UMLS_CUI:C0220704 |
|---|---|
| Subclassof | DOID_0060388 |
| Data Source | DOID, MESH |
| Synonyms | Shprintzen syndrome, VCF-Velocardiofacial syndrome |
| Mesh Id | D004062 |
| Mesh Label | DiGeorge Syndrome |
| Mesh Subclassof | D058165 |
| Doid Label | velocardiofacial syndrome |
| Doid Description | A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. OMIM mapping confirmed by DO. [LS]. |
| Disease Node Id | disease_node_2526 |
| Doid Id | DOID_12583 |
| Label | Digeorge Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)