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Maffucci syndrome
Summary
- Definition
- A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0060221
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75874 | Isocitrate dehydrogenase [NADP] cytoplasmic | |
| P48735 | Isocitrate dehydrogenase [NADP], mitochondrial | |
| Q16394 | Exostosin-1 | |
| Q93063 | Exostosin-2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000853 | Goiter |
| HP:0001482 | Subcutaneous nodule |
| HP:0001510 | Growth delay |
| HP:0002015 | Dysphagia |
| HP:0002650 | Scoliosis |
| HP:0002653 | Bone pain |
| HP:0002757 | Recurrent fractures |
| HP:0002797 | Osteolysis |
| HP:0002893 | Pituitary adenoma |
| HP:0002897 | Parathyroid adenoma |
