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Camurati-Engelmann disease
Summary
- Synonym
-
- Diaphyseal dysplasia
- Engelman's disease
- progressive diaphyseal dysplasia
- Definition
- An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
- Super Class
- monogenic disease osteosclerosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09382 | Galectin-1 | |
| P16444 | Dipeptidase 1 | |
| P24557 | Thromboxane-A synthase | |
| Q9HC07 | Putative divalent cation/proton antiporter TMEM165 |
