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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 |
|---|---|---|---|
| 23169 | SLC35D1 | solute carrier family 35 member D1 | |
| 23443 | SLC35A3 | solute carrier family 35 member A3 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 54187 | NANS | N-acetylneuraminate synthase | |
| 64131 | XYLT1 | xylosyltransferase 1 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 79796 | ALG9 | ALG9 alpha-1,2-mannosyltransferase | |
| 100507436 | MICA | MHC class I polypeptide-related sequence A |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 | |
| Q9NR45 | Sialic acid synthase | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9Y2D2 | UDP-N-acetylglucosamine transporter |
