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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 |
|---|---|---|---|
| 9791 | PTDSS1 | phosphatidylserine synthase 1 | |
| 10584 | COLEC10 | collectin subfamily member 10 | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 64131 | XYLT1 | xylosyltransferase 1 | |
| 78989 | COLEC11 | collectin subfamily member 11 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q93063 | Exostosin-2 | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UQE7 | Structural maintenance of chromosomes protein 3 | |
| Q9Y6Z7 | Collectin-10 |
