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arterial tortuosity syndrome
Summary
- Definition
- A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta.
- Super Class
- connective tissue disease
External Links
- Disease Ontology
- DOID:0050645
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 444458 | slc2a10.S | solute carrier family 2 (facilitated glucose transporter), member 10 S homeolog | Xenopus laevis (African clawed frog) | |
| 780388 | slc2a10 | solute carrier family 2 (facilitated glucose transporter), member 10 | Xenopus tropicalis (tropical clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002020 | Gastroesophageal reflux |
| HP:0002021 | Pyloric stenosis |
| HP:0002036 | Hiatus hernia |
| HP:0002094 | Dyspnea |
| HP:0002098 | Respiratory distress |
| HP:0002616 | Aortic root aneurysm |
| HP:0002617 | Vascular dilatation |
| HP:0002647 | Aortic dissection |
| HP:0002650 | Scoliosis |
| HP:0002673 | Coxa valga |
