|
gptkbp:instanceOf
|
gptkb:disease
|
|
gptkbp:diagnosedBy
|
gptkb:sweat_chloride_test
genetic testing
|
|
gptkbp:DOID
|
1485
|
|
gptkbp:firstDescribed
|
1938
|
|
gptkbp:frequency
|
rare disease
|
|
gptkbp:hasOrphanetID
|
166
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
ORPHA:166
|
|
gptkbp:ICD-10_code
|
E84
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:MeSH_ID
|
D003550
|
|
gptkbp:mortalityRate
|
reduced life expectancy
|
|
gptkbp:mutationAssociatedWith
|
gptkb:CFTR
|
|
gptkbp:name
|
gptkb:Cystic_fibrosis
|
|
gptkbp:namedAfter
|
cystic changes in pancreas
|
|
gptkbp:OMIM
|
219700
|
|
gptkbp:OrphanetURL
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=166
|
|
gptkbp:prevalence
|
1/2500 in Caucasians
|
|
gptkbp:symptom
|
gptkb:meconium_ileus
failure to thrive
pancreatic insufficiency
chronic lung disease
recurrent respiratory infections
male infertility
|
|
gptkbp:synonym
|
gptkb:Mucoviscidosis
CF
|
|
gptkbp:systemAffected
|
digestive system
reproductive system
respiratory system
|
|
gptkbp:treatment
|
gptkb:CFTR_modulators
gptkb:airway_clearance_therapy
antibiotics
pancreatic enzyme replacement
|
|
gptkbp:UMLS_CUI
|
C0010674
|
|
gptkbp:bfsParent
|
gptkb:Leigh_syndrome
|
|
gptkbp:bfsLayer
|
7
|