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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
UniCarb-DR
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:0008434 | Hypoplastic cervical vertebrae |
| HP:0008752 | Laryngeal cartilage malformation |
| HP:0008905 | Rhizomelia |
| HP:0009803 | Short phalanx of finger |
| HP:0009824 | Upper limb undergrowth |
| HP:0009826 | Limb undergrowth |
| HP:0010049 | Short metacarpal |
| HP:0011800 | Midface retrusion |
| HP:0012385 | Camptodactyly |
| HP:0012427 | Increased femoral anteversion |
