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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
- GARD
- MGI genotype (from TogoID)
-
- 5312912
- 3587030
- 3610986
- 3610987
- 3619802
- 3623411
- 3623923
- 3628757
- 3629227
- 3703705
- 3850161
- 4868120
- 3587029
- 5447056
- 5476432
- 5487398
- 5505393
- 5618862
- 5620189
- 5645264
- 5648021
- 5766948
- 7335080
- 3046805
- 2451320
- 2676545
- 2680668
- 3033772
- 3037863
- 3046796
- 3046797
- 3046798
- 3046801
- 3046803
- 2175797
- 3047228
- 3510311
- 3510312
- 3510313
- 3510314
- 3522704
- 3586912
- 3586914
- 3586915
- 3587028
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12667 | Chrd | chordin | |
| 12929 | Crkl | v-crk avian sarcoma virus CT10 oncogene homolog-like | |
| 14179 | Fgf8 | fibroblast growth factor 8 | |
| 15531 | Ndst1 | N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 | |
| 21813 | Tgfbr2 | transforming growth factor, beta receptor II | |
| 22339 | Vegfa | vascular endothelial growth factor A | |
| 67784 | Plxnd1 | plexin D1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14640 | Segment polarity protein dishevelled homolog DVL-1 | |
| Q92890 | Ubiquitin recognition factor in ER-associated degradation protein 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000470 | Short neck |
| HP:0000486 | Strabismus |
| HP:0000492 | Abnormal eyelid morphology |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000501 | Glaucoma |
| HP:0000506 | Telecanthus |
| HP:0000508 | Ptosis |
| HP:0000518 | Cataract |
| HP:0000568 | Microphthalmia |
| HP:0000582 | Upslanted palpebral fissure |
