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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95528 | Solute carrier family 2, facilitated glucose transporter member 10 | |
| P21589 | 5'-nucleotidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001659 | Aortic regurgitation |
| HP:0001714 | Ventricular hypertrophy |
| HP:0001977 | Abnormal thrombosis |
| HP:0002140 | Ischemic stroke |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003621 | Juvenile onset |
| HP:0003623 | Neonatal onset |
| HP:0004955 | Generalized arterial tortuosity |
| HP:0005328 | Progeroid facial appearance |
