Statements (30)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:disease
rare disease |
gptkbp:affects |
gptkb:bone
gptkb:skin gptkb:skeletal_muscle infants viscera |
gptkbp:associatedWith |
gptkb:PDGFRB
gptkb:NOTCH3 |
gptkbp:canBe |
solitary
generalized multicentric |
gptkbp:characterizedBy |
benign tumors
myofibroblastic proliferation |
gptkbp:diagnosedBy |
imaging
biopsy |
gptkbp:firstDescribed |
1954
|
gptkbp:hasOrphanetID |
ORPHA:2846
|
https://www.w3.org/2000/01/rdf-schema#label |
infantile myofibromatosis
|
gptkbp:ICD-10_code |
D48.1
|
gptkbp:OMIM |
228550
|
gptkbp:prognosis |
generally good (if not visceral)
|
gptkbp:symptom |
firm nodules
organ dysfunction (if visceral) painless masses |
gptkbp:treatment |
astronomer
surgery chemotherapy (in severe cases) |
gptkbp:bfsParent |
gptkb:PDGFRB
|
gptkbp:bfsLayer |
6
|