|
gptkbp:instanceOf
|
gptkb:Mendelian_Inheritance_in_Man_entry
|
|
gptkbp:alternativeName
|
gptkb:Mucoviscidosis
CF
|
|
gptkbp:containsGene
|
gptkb:CFTR
|
|
gptkbp:describes
|
Cystic fibrosis, a disorder affecting the lungs, pancreas, and other organs
|
|
gptkbp:firstDescribed
|
1938
|
|
gptkbp:frequency
|
1 in 2,500 to 3,500 newborns (Caucasian population)
|
|
gptkbp:hasCarrierFrequency
|
1 in 25 (Caucasian population)
|
|
gptkbp:hasClinicalFeature
|
gptkb:sinusitis
gptkb:bronchiectasis
gptkb:meconium_ileus
failure to thrive
nasal polyps
recurrent lung infections
male infertility
fat malabsorption
clubbing of fingers
|
|
gptkbp:hasDatabaseReference
|
OMIM:219700
GeneReviews: Cystic Fibrosis
Orphanet:586
|
|
gptkbp:hasGeneProduct
|
gptkb:CFTR_protein
|
|
gptkbp:hasMostCommonMutation
|
gptkb:ΔF508
|
|
gptkbp:hasMutationType
|
nonsense
deletion
missense
|
|
gptkbp:hasPhenotype
|
pancreatic insufficiency
elevated sweat chloride
chronic respiratory infections
|
|
gptkbp:hasTestingMethod
|
gptkb:sweat_chloride_test
genetic testing
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:locatedOnChromosome
|
7q31.2
|
|
gptkbp:OMIM
|
219700
|
|
gptkbp:prognosis
|
reduced life expectancy
|
|
gptkbp:refersTo
|
gptkb:Cystic_Fibrosis
|
|
gptkbp:treatment
|
gptkb:CFTR_modulators
antibiotics
pancreatic enzyme replacement
airway clearance
|
|
gptkbp:bfsParent
|
gptkb:P0CG47
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
MIM 109700
|