Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
nonhereditary disorder skeletal disorder |
| gptkbp:affects |
skeletal system
|
| gptkbp:associatedWith |
IDH1 mutation
IDH2 mutation |
| gptkbp:complication |
malignant transformation to chondrosarcoma
|
| gptkbp:differentialDiagnosis |
gptkb:Maffucci_syndrome
multiple hereditary exostoses |
| gptkbp:firstDescribed |
1899
Louis Xavier Edouard Ollier |
| gptkbp:frequency |
very rare
|
| gptkbp:hasOrphanetID |
ORPHA:297
|
| https://www.w3.org/2000/01/rdf-schema#label |
Ollier disease
|
| gptkbp:ICD-10_code |
Q78.4
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:OMIM |
166000
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
bone deformities
limb length discrepancy multiple enchondromas pathological fractures |
| gptkbp:synonym |
enchondromatosis
multiple enchondromatosis |
| gptkbp:treatment |
orthopedic surgery
monitoring for malignancy |
| gptkbp:bfsParent |
gptkb:rhabdomyosarcoma
|
| gptkbp:bfsLayer |
5
|