Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
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 |
|---|---|---|---|
| 176 | ACAN | aggrecan | |
| 249 | ALPL | alkaline phosphatase, biomineralization associated | |
| 570 | BAAT | bile acid-CoA:amino acid N-acyltransferase | |
| 952 | CD38 | CD38 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 1594 | CYP27B1 | cytochrome P450 family 27 subfamily B member 1 | |
| 1634 | DCN | decorin | |
| 4507 | MTAP | methylthioadenosine phosphorylase |
Related Glycoprotein
