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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:0100633 | Esophagitis |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000193 | Bifid uvula |
| HP:0000218 | High palate |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000444 | Convex nasal ridge |
| HP:0000483 | Astigmatism |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000767 | Pectus excavatum |
