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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
All Resources
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:0003042 | Elbow dislocation |
| HP:0003097 | Short femur |
| HP:0003423 | Thoracolumbar kyphoscoliosis |
| HP:0004664 | Facial midline hemangioma |
| HP:0004991 | Rhizomelic arm shortening |
| HP:0005257 | Thoracic hypoplasia |
| HP:0006009 | Broad phalanx |
| HP:0006375 | Dumbbell-shaped femur |
| HP:0006385 | Short lower limbs |
| HP:0008110 | Equinovarus deformity |
