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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 57104 | PNPLA2 | patatin like phospholipase domain containing 2 | |
| 64131 | XYLT1 | xylosyltransferase 1 | |
| 113189 | CHST14 | carbohydrate sulfotransferase 14 | |
| 120227 | CYP2R1 | cytochrome P450 family 2 subfamily R member 1 | |
| 126792 | B3GALT6 | beta-1,3-galactosyltransferase 6 |
Related Glycoprotein
