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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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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:0000023 | Inguinal hernia |
| HP:0000256 | Macrocephaly |
| HP:0000272 | Malar flattening |
| HP:0000276 | Long face |
| HP:0000316 | Hypertelorism |
| HP:0000400 | Macrotia |
| HP:0000486 | Strabismus |
| HP:0000545 | Myopia |
| HP:0000563 | Keratoconus |
| HP:0000581 | Blepharophimosis |
