Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
lungs
digestive system pancreas reproductive system |
| gptkbp:alsoKnownAs |
cystic fibrosis
|
| gptkbp:causedBy |
mutation in CFTR gene
|
| gptkbp:complication |
gptkb:diabetes_mellitus
respiratory failure infertility |
| gptkbp:diagnosedBy |
gptkb:sweat_test
genetic testing |
| gptkbp:firstDescribed |
1938
|
| gptkbp:frequency |
about 1 in 2,500 to 3,500 newborns in the US
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mucoviscidosis
|
| gptkbp:ICD-10_code |
E84
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D003550
|
| gptkbp:OMIM |
219700
|
| gptkbp:prevalence |
most common in people of Northern European descent
|
| gptkbp:prognosis |
reduced life expectancy
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
difficulty breathing
chronic cough lung infections poor growth salty skin |
| gptkbp:treatment |
gptkb:CFTR_modulators
antibiotics chest physiotherapy pancreatic enzyme supplements |
| gptkbp:bfsParent |
gptkb:ORPHA:58
|
| gptkbp:bfsLayer |
6
|