infantile myofibromatosis

GPTKB entity

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