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 |
|---|---|---|---|
| 43 | ACHE | acetylcholinesterase (Yt blood group) | |
| 176 | ACAN | aggrecan | |
| 224 | ALDH3A2 | aldehyde dehydrogenase 3 family member A2 | |
| 231 | AKR1B1 | aldo-keto reductase family 1 member B | |
| 249 | ALPL | alkaline phosphatase, biomineralization associated | |
| 952 | CD38 | CD38 molecule | |
| 1298 | COL9A2 | collagen type IX alpha 2 chain | |
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1557 | CYP2C19 | cytochrome P450 family 2 subfamily C member 19 | |
| 1559 | CYP2C9 | cytochrome P450 family 2 subfamily C member 9 |
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 |
