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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
hypochondrogenesis
Summary
- Definition
- An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen.
- Super Class
- monogenic disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0080044
- Mondo Disease Ontology
- MeSH
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28481 | Collagen alpha-1(II) chain |
