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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:0002812 | Coxa vara |
| HP:0002827 | Hip dislocation |
| HP:0002878 | Respiratory failure |
| HP:0003196 | Short nose |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004415 | Pulmonary artery stenosis |
| HP:0004942 | Aortic aneurysm |
| HP:0005344 | Abnormal carotid artery morphology |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis |
| HP:0006543 | Cardiorespiratory arrest |
