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humeroradial synostosis
Summary
- Definition
- A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity.
- Super Class
- synostosis
External Links
- Disease Ontology
- DOID:0060467
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 2131 | EXT1 | exostosin glycosyltransferase 1 | |
| 2132 | EXT2 | exostosin glycosyltransferase 2 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5648 | MASP1 | MBL associated serine protease 1 | |
| 7369 | UMOD | uromodulin | |
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 |
Related Glycoprotein
