|
gptkbp:instanceOf
|
gptkb:disease
|
|
gptkbp:affects
|
gptkb:skin
gptkb:mast_cells
gastrointestinal tract
liver
spleen
bone marrow
|
|
gptkbp:associatedWith
|
KIT gene mutation
|
|
gptkbp:canBe
|
hereditary
sporadic
|
|
gptkbp:causedBy
|
abnormal proliferation of mast cells
|
|
gptkbp:complication
|
gptkb:bone
organ dysfunction
anaphylactic shock
|
|
gptkbp:diagnosedBy
|
blood test
biopsy
tryptase level
|
|
gptkbp:field
|
dermatology
hematology
|
|
gptkbp:firstDescribed
|
1869
|
|
gptkbp:hasOrphanetID
|
gptkb:ORPHA:482
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
mastocytosis
|
|
gptkbp:ICD-10_code
|
gptkb:D47.0
|
|
gptkbp:MeSH_ID
|
gptkb:D008410
|
|
gptkbp:OMIM
|
154800
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:riskFactor
|
gptkb:KIT_D816V_mutation
family history
|
|
gptkbp:subspecies
|
gptkb:aggressive_systemic_mastocytosis
gptkb:cutaneous_mastocytosis
gptkb:indolent_systemic_mastocytosis
gptkb:mast_cell_leukemia
gptkb:mast_cell_sarcoma
gptkb:smoldering_systemic_mastocytosis
gptkb:systemic_mastocytosis
|
|
gptkbp:symptom
|
diarrhea
abdominal pain
fatigue
itching
anaphylaxis
bone pain
flushing
skin lesions
|
|
gptkbp:treatment
|
corticosteroids
tyrosine kinase inhibitors
epinephrine
antihistamines
|
|
gptkbp:bfsParent
|
gptkb:c-KIT
gptkb:mast_cells
gptkb:c-Kit
gptkb:stem_cell_factor
|
|
gptkbp:bfsLayer
|
7
|