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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 |
|---|---|---|---|
| 5238 | PGM3 | phosphoglucomutase 3 | |
| 5476 | CTSA | cathepsin A | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6448 | SGSH | N-sulfoglucosamine sulfohydrolase | |
| 8534 | CHST1 | carbohydrate sulfotransferase 1 | |
| 9060 | PAPSS2 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | |
| 9394 | HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 |
Related Glycoprotein
