|
gptkbp:instanceOf
|
gptkb:disease
|
|
gptkbp:causedBy
|
mutations in CFTR gene
|
|
gptkbp:complication
|
gptkb:liver_disease
gptkb:pneumonia
gptkb:bone
gptkb:diabetes_mellitus
gptkb:cor_pulmonale
respiratory failure
hemoptysis
digital clubbing
distal intestinal obstruction syndrome
nasal polyposis
|
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gptkbp:containsGene
|
gptkb:CFTR
|
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gptkbp:frequency
|
gptkb:rare_disease
|
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gptkbp:hasAffectedSystem
|
digestive system
endocrine system
reproductive system
respiratory system
|
|
gptkbp:hasDiagnosticMethod
|
gptkb:sweat_chloride_test
genetic testing
newborn screening
|
|
gptkbp:hasEpidemiology
|
most common lethal genetic disease in Caucasians
|
|
gptkbp:hasGeneticBasis
|
gptkb:CFTR_gene_mutation
|
|
gptkbp:hasOrphanetID
|
58
|
|
gptkbp:ICD-10_code
|
E84
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D003550
|
|
gptkbp:mortalityRate
|
reduced life expectancy
|
|
gptkbp:name
|
gptkb:Cystic_fibrosis
|
|
gptkbp:OMIM
|
219700
|
|
gptkbp:onset
|
childhood
|
|
gptkbp:OrphanetURL
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=58
|
|
gptkbp:prevalence
|
1 in 2500 live births (Caucasians)
|
|
gptkbp:symptom
|
failure to thrive
pancreatic insufficiency
chronic lung disease
recurrent respiratory infections
male infertility
|
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gptkbp:synonym
|
gptkb:Mucoviscidosis
|
|
gptkbp:treatment
|
gptkb:CFTR_modulators
antibiotics
lung transplantation
chest physiotherapy
pancreatic enzyme replacement
|
|
gptkbp:UMLS_CUI
|
C0010674
|
|
gptkbp:bfsParent
|
gptkb:Ataxia_with_vitamin_E_deficiency
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ORPHA:58
|