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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 |
|---|---|---|---|
| 176 | ACAN | aggrecan | |
| 2131 | EXT1 | exostosin glycosyltransferase 1 | |
| 2132 | EXT2 | exostosin glycosyltransferase 2 | |
| 2134 | EXTL1 | exostosin like glycosyltransferase 1 | |
| 2135 | EXTL2 | exostosin like glycosyltransferase 2 | |
| 2137 | EXTL3 | exostosin like glycosyltransferase 3 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 6383 | SDC2 | syndecan 2 |
| 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) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q93063 | Exostosin-2 | |
| Q9UBQ6 | Exostosin-like 2 | |
| Q9Y251 | Heparanase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0010049 | Short metacarpal |
| HP:0010501 | Limitation of knee mobility |
| HP:0012151 | Hemothorax |
| HP:0012531 | Pain |
| HP:0100555 | Asymmetric growth |
| HP:0100559 | Lower limb asymmetry |
| HP:0100749 | Chest pain |
| HP:0002762 | Multiple exostoses |
| HP:0011463 | Childhood onset |
| HP:0003105 | Protuberances at ends of long bones |
