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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
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Repository for lectin-assisted multimodality data
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MIRAGE
achondrogenesis type II
Summary
- Definition
- An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis.
- Super Class
- achondrogenesis autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080056
- Mondo Disease Ontology
- MeSH
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02458 | Collagen alpha-1(II) chain |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28481 | Collagen alpha-1(II) chain |
