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gptkbp:instanceOf
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gptkb:disease
gptkb:non-Langerhans_cell_histiocytosis
rare disease
|
|
gptkbp:affects
|
adults
heart
lungs
central nervous system
kidneys
bones
retroperitoneum
|
|
gptkbp:category
|
autoimmune disease
neoplastic disease
systemic disease
histiocytosis
|
|
gptkbp:cause
|
mutation in BRAF gene
mutation in MAPK pathway
|
|
gptkbp:diagnosedBy
|
imaging
genetic testing
biopsy
|
|
gptkbp:firstDescribed
|
1930
|
|
gptkbp:frequency
|
less than 1000 cases worldwide
|
|
gptkbp:hasOrphanetID
|
ORPHA:886
|
|
gptkbp:hasType
|
foamy histiocytes
CD1a negative cells
CD68 positive cells
S100 negative cells
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Erdheim-Chester disease
|
|
gptkbp:ICD-10_code
|
E85.8
|
|
gptkbp:mortalityRate
|
high if untreated
|
|
gptkbp:namedAfter
|
Jakob Erdheim
William Chester
|
|
gptkbp:notableCase
|
gptkb:Gene_Wilder
|
|
gptkbp:OMIM
|
614527
|
|
gptkbp:prevalence
|
ultra-rare
|
|
gptkbp:prognosis
|
variable
|
|
gptkbp:relatedTo
|
gptkb:Langerhans_cell_histiocytosis
|
|
gptkbp:symptom
|
gptkb:xanthelasma
gptkb:diabetes_insipidus
bone pain
neurological symptoms
exophthalmos
|
|
gptkbp:treatment
|
gptkb:BRAF_inhibitors
gptkb:interferon-alpha
gptkb:MEK_inhibitors
chemotherapy
corticosteroids
targeted therapy
|
|
gptkbp:bfsParent
|
gptkb:Langerhans_cell_histiocytosis
|
|
gptkbp:bfsLayer
|
6
|