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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
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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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 |
|---|---|---|
| P50443 | Sulfate transporter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003440 | Horizontal sacrum |
| HP:0005280 | Depressed nasal bridge |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0003864 | Bifid humerus |
| HP:0003185 | Short greater sciatic notch |
| HP:0002650 | Scoliosis |
| HP:0003826 | Stillbirth |
| HP:0005819 | Short middle phalanx of finger |
| HP:0003180 | Flat acetabular roof |
| HP:0003417 | Coronal cleft vertebrae |
