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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:0000768 | Pectus carinatum |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0000973 | Cutis laxa |
| HP:0000977 | Soft skin |
| HP:0000978 | Bruising susceptibility |
| HP:0001027 | Soft, doughy skin |
| HP:0001290 | Generalized hypotonia |
| HP:0001371 | Flexion contracture |
| HP:0001537 | Umbilical hernia |
| HP:0001650 | Aortic valve stenosis |
