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GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
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 |
|---|---|---|
| P08758 | Annexin A5 | |
| P09874 | Poly [ADP-ribose] polymerase 1 | |
| P50443 | Sulfate transporter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000175 | Cleft palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000286 | Epicanthus |
| HP:0000316 | Hypertelorism |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000369 | Low-set ears |
| HP:0000470 | Short neck |
| HP:0000506 | Telecanthus |
| HP:0000773 | Short ribs |
