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Repository for lectin-assisted multimodality data
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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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95528 | Solute carrier family 2, facilitated glucose transporter member 10 | |
| O95967 | EGF-containing fibulin-like extracellular matrix protein 2 |
- 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 |
