Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
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 / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75369 | Filamin-B | |
| 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:0001522 | Death in infancy |
| HP:0003417 | Coronal cleft vertebrae |
