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Ollier disease
Summary
- Synonym
-
- DYSCHONDROPLASIA
- ENCHONDROMATOSIS, MULTIPLE
- Enchondromatosis with haemangiomata
- Kast's syndrome
- OSTEOCHONDROMATOSIS
- Definition
- A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.
- Super Class
- syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2131 | EXT1 | exostosin glycosyltransferase 1 | |
| 2132 | EXT2 | exostosin glycosyltransferase 2 | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3417 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | |
| 3418 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | |
| P48735 | Isocitrate dehydrogenase [NADP], mitochondrial | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein | |
| Q16394 | Exostosin-1 | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 | |
| Q93063 | Exostosin-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000826 | Precocious puberty |
| HP:0000926 | Platyspondyly |
| HP:0000944 | Abnormal metaphysis morphology |
| HP:0001028 | Hemangioma |
| HP:0001387 | Joint stiffness |
| HP:0001482 | Subcutaneous nodule |
| HP:0001903 | Anemia |
| HP:0001928 | Abnormality of coagulation |
| HP:0002653 | Bone pain |
| HP:0002664 | Neoplasm |
