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gptkbp:instanceOf
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gptkb:disease
genetic disorder
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gptkbp:affects
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digestive system
reproductive system
respiratory system
exocrine glands
mucus production
sweat glands
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gptkbp:complication
|
gptkb:liver_disease
gptkb:bone
gptkb:diabetes_mellitus
respiratory failure
infertility
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gptkbp:diagnosedBy
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gptkb:sweat_test
genetic testing
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gptkbp:firstDescribed
|
gptkb:Dorothy_Andersen
1938
|
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gptkbp:frequency
|
about 1 in 2,500 to 3,500 newborns in the US
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|
gptkbp:hasAnimalModel
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gptkb:Fox
gptkb:meat
gptkb:mouse
|
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gptkbp:hasAwarenessMonth
|
May
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gptkbp:hasCarrierFrequency
|
about 1 in 25 in Caucasians
|
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gptkbp:hasCarrierTesting
|
yes
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|
gptkbp:hasGeneTherapyResearch
|
yes
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gptkbp:hasNewbornScreening
|
yes
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Cystic Fibrosis
|
|
gptkbp:ICD-10_code
|
E84
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gptkbp:inheritance
|
autosomal recessive
|
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gptkbp:lifeExpectancy
|
40-50 years (with treatment)
|
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gptkbp:MeSH_ID
|
D003550
|
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gptkbp:mostCommonMutation
|
gptkb:ΔF508
|
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gptkbp:mutationAssociatedWith
|
gptkb:CFTR_gene
|
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gptkbp:namedAfter
|
cystic changes and fibrosis in the pancreas
|
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gptkbp:OMIM
|
219700
|
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gptkbp:organization
|
gptkb:Cystic_Fibrosis_Trust
gptkb:Cystic_Fibrosis_Foundation
|
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gptkbp:prevalence
|
most common in people of Northern European descent
|
|
gptkbp:symptom
|
difficulty breathing
chronic cough
lung infections
poor growth
pancreatic insufficiency
salty skin
|
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gptkbp:treatment
|
gptkb:CFTR_modulators
antibiotics
lung transplantation
pancreatic enzyme replacement
airway clearance techniques
|
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gptkbp:bfsParent
|
gptkb:The_Power_of_We
|
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gptkbp:bfsLayer
|
5
|