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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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: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 |
