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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:0001776 | Bilateral talipes equinovarus |
| HP:0001840 | Metatarsus adductus |
| HP:0001852 | Sandal gap |
| HP:0001999 | Abnormal facial shape |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0002786 | Tracheobronchomalacia |
| HP:0002857 | Genu valgum |
| HP:0002947 | Cervical kyphosis |
| HP:0002983 | Micromelia |
| HP:0002987 | Elbow flexion contracture |
