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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
External Links
- Disease Ontology
- DOID:206
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 398214 | ext1.L | exostosin glycosyltransferase 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 399115 | ext1.S | exostosin glycosyltransferase 1 S homeolog | Xenopus laevis (African clawed frog) | |
| 448393 | ext1 | exostosin glycosyltransferase 1 | Xenopus tropicalis (tropical clawed frog) | |
| 493398 | extl3 | exostosin like glycosyltransferase 3 | Xenopus tropicalis (tropical clawed frog) | |
| 100151709 | ext2 | exostosin glycosyltransferase 2 | Xenopus tropicalis (tropical clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000016 | Urinary retention |
| HP:0000896 | Rib exostoses |
| HP:0000918 | Scapular exostoses |
| HP:0001191 | Abnormal carpal morphology |
| HP:0001369 | Arthritis |
| HP:0001376 | Limitation of joint mobility |
| HP:0001850 | Abnormality of the tarsal bones |
| HP:0002015 | Dysphagia |
| HP:0002107 | Pneumothorax |
| HP:0002144 | Tethered cord |
