Statements (48)
| Predicate | Object |
|---|---|
| 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 |
| gptkbp:containsGene |
gptkb:CFTR
|
| gptkbp:frequency |
rare disease
|
| 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 |
CFTR gene mutation
|
| gptkbp:hasOrphanetID |
58
|
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA: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 |
| 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 |
5
|