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
multiple epiphyseal dysplasia
Summary
- Synonym
-
- polyepiphyseal dysplasia
- Definition
- An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain.
- Super Class
- osteochondrodysplasia
External Links
- Disease Ontology
- DOID:12721
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- GARD
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1836 | SLC26A2 | solute carrier family 26 member 2 | |
| 2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
| 2588 | GALNS | galactosamine (N-acetyl)-6-sulfatase | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 3955 | LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | |
| 4669 | NAGLU | N-acetyl-alpha-glucosaminidase | |
| 4758 | NEU1 | neuraminidase 1 | |
| 5167 | ENPP1 | ectonucleotide pyrophosphatase/phosphodiesterase 1 |
Related Glycoprotein
