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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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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:0000774 | Narrow chest |
| HP:0001156 | Brachydactyly |
| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand |
| HP:0001230 | Broad metacarpals |
| HP:0001234 | Hitchhiker thumb |
| HP:0001357 | Plagiocephaly |
| HP:0001538 | Protuberant abdomen |
| HP:0001561 | Polyhydramnios |
| HP:0001591 | Bell-shaped thorax |
| HP:0001602 | Laryngeal stenosis |
