Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
circulatory system
skeletal system |
| gptkbp:complication |
gptkb:rhabdomyosarcoma
glioma bone deformities increased risk of malignancy ovarian tumors pancreatic tumors |
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing radiographic imaging |
| gptkbp:firstDescribed |
1881
Angelo Maffucci |
| gptkbp:frequency |
very rare
|
| gptkbp:hasGeneticAlteration |
gptkb:IDH1_gene
gptkb:IDH2_gene |
| https://www.w3.org/2000/01/rdf-schema#label |
Maffucci syndrome
|
| gptkbp:inheritance |
sporadic
|
| gptkbp:onset |
childhood
|
| gptkbp:symptom |
multiple enchondromas
soft tissue hemangiomas |
| gptkbp:synonym |
Enchondromatosis with hemangiomas
|
| gptkbp:treatment |
surgical intervention
symptomatic management |
| gptkbp:bfsParent |
gptkb:rhabdomyosarcoma
|
| gptkbp:bfsLayer |
5
|