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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
DiGeorge syndrome
Summary
- Synonym
-
- 22q11.2 deletion syndrome
- DiGeorge sequence
- DiGeorge's syndrome
- Pharyngeal pouch 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.
- Super Class
- autosomal dominant disease chromosomal deletion syndrome syndrome
External Links
- Disease Ontology
- DOID:11198
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12667 | Chrd | chordin | |
| 12929 | Crkl | v-crk avian sarcoma virus CT10 oncogene homolog-like | |
| 13542 | Dvl1 | dishevelled segment polarity protein 1 | |
| 14179 | Fgf8 | fibroblast growth factor 8 | |
| 15531 | Ndst1 | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 | |
| 18100 | Mrpl40 | mitochondrial ribosomal protein L40 | |
| 21813 | Tgfbr2 | transforming growth factor, beta receptor II | |
| 22339 | Vegfa | vascular endothelial growth factor A | |
| 27886 | Ess2 | ess-2 splicing factor | |
| 67784 | Plxnd1 | plexin D1 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 30682 | vegfaa | vascular endothelial growth factor Aa | |
| 65089 | fgf8b | fibroblast growth factor 8b | |
| 570459 | ndst1b | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1b | |
| 100329944 | ndst1a | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1a |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000778 | Hypoplasia of the thymus |
| HP:0000821 | Hypothyroidism |
| HP:0000829 | Hypoparathyroidism |
| HP:0000836 | Hyperthyroidism |
| HP:0000929 | Abnormal skull morphology |
| HP:0000979 | Purpura |
| HP:0001051 | Seborrheic dermatitis |
| HP:0001053 | Hypopigmented skin patches |
| HP:0001061 | Acne |
| HP:0001081 | Cholelithiasis |
