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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
osteogenesis imperfecta
Summary
- Synonym
-
- Lobstein's syndrome
- Osteopsathyrosis
- Vrolik's disease
- brittle bone disease
- Definition
- An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue.
- Super Class
- osteochondrodysplasia
External Links
- Disease Ontology
- DOID:12347
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P02452 | Collagen alpha-1(I) chain | |
| P08123 | Collagen alpha-2(I) chain | |
| Q86UU1 | Pleckstrin homology-like domain family B member 1 | |
| Q9H6E4 | Coiled-coil domain-containing protein 134 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P97471 | Mothers against decapentaplegic homolog 4 | |
| Q91VL4 | Col1a2 protein (Fragment) | |
| Q99LL6 | Col1a1 protein (Fragment) |
