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MIRAGE
hereditary multiple exostoses
Summary
- Synonym
-
- Multiple congenital exostosis
- Multiple exostosis syndromes
- Osteochondromatosis syndrome
- hereditary multiple exostoses 1
- hereditary multiple exostoses 2
- hereditary multiple exostoses 3
- multiple ostechondromas
- Definition
- An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth.
- Super Class
- autosomal dominant disease exostosis
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16394 | Exostosin-1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P97464 | Exostosin-1 | |
| V9GX32 | Exostosin glycosyltransferase 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O01704 | Exostosin-1 homolog | |
| O01705 | Exostosin-2 homolog |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003026 | Short long bone |
| HP:0003326 | Myalgia |
| HP:0003330 | Abnormal bone structure |
| HP:0003396 | Syringomyelia |
| HP:0003406 | Peripheral nerve compression |
| HP:0003474 | Somatic sensory dysfunction |
| HP:0003959 | Deformed forearm bones |
| HP:0003977 | Deformed radius |
| HP:0004302 | Functional motor deficit |
| HP:0004322 | Short stature |
