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VACTERL association
Summary
- Definition
- A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:14679
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4968 | OGG1 | 8-oxoguanine DNA glycosylase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 55556 | ENOSF1 | enolase superfamily member 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60484 | Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN | |
| Q13478 | Interleukin-18 receptor 1 | |
| Q7L5Y1 | Mitochondrial enolase superfamily member 1 |
