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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 |
|---|---|---|---|
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5167 | ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 8705 | B3GALT4 | beta-1,3-galactosyltransferase 4 | |
| 9060 | PAPSS2 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | |
| 9917 | FAM20B | FAM20B glycosaminoglycan xylosylkinase | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 23545 | ATP6V0A2 | ATPase H+ transporting V0 subunit a2 | |
| 29940 | DSE | dermatan sulfate epimerase | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 |
Related Glycoprotein
