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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 |
|---|---|---|---|
| 649 | BMP1 | bone morphogenetic protein 1 | |
| 1277 | COL1A1 | collagen type I alpha 1 chain | |
| 1278 | COL1A2 | collagen type I alpha 2 chain | |
| 4089 | SMAD4 | SMAD family member 4 | |
| 23187 | PHLDB1 | pleckstrin homology like domain family B member 1 | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 | |
| 79879 | CCDC134 | coiled-coil domain containing 134 |
