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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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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
atelosteogenesis
Summary
- Definition
- An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns.
- Super Class
- osteochondrodysplasia spinal disease
External Links
- Disease Ontology
- DOID:0050648
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P08758 | Annexin A5 | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P50443 | Sulfate transporter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012810 | Wide nasal base |
| HP:0100337 | Bilateral cleft palate |
| HP:0100694 | Tibial torsion |
| HP:0001522 | Death in infancy |
| HP:0003417 | Coronal cleft vertebrae |
| HP:0002093 | Respiratory insufficiency |
| HP:0002650 | Scoliosis |
| HP:0003826 | Stillbirth |
| HP:0000926 | Platyspondyly |
| HP:0005819 | Short middle phalanx of finger |
