Statements (49)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:age_of_onset |
childhood
|
| gptkbp:complication |
gptkb:liver_disease
gptkb:bone gptkb:bronchiectasis gptkb:diabetes_mellitus infertility |
| gptkbp:has_biomarker |
impaired lung function
elevated sweat chloride pancreatic enzyme deficiency |
| gptkbp:has_cause |
mutation in CFTR gene
|
| gptkbp:has_database_cross_reference |
DOID:1485
GARD:6162 HPO:HP:0001738 ICD-10:E84 ICD-11:4A20 ICD-9:277.0 MESH:D003550 MONDO:0009061 MeSH:D003550 MedDRA:10011794 MedGen:C0010674 NCIT:C34716 OMIM:219700 Orphanet:215 SNOMEDCT:190905008 UMLS:C0010674 |
| gptkbp:has_genetic_test |
CFTR gene sequencing
|
| gptkbp:has_treatment |
gptkb:CFTR_modulators
antibiotics chest physiotherapy pancreatic enzyme replacement |
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:215
|
| gptkbp:ICD-10_code |
E84
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D003550
|
| gptkbp:name |
gptkb:Cystic_fibrosis
|
| gptkbp:OMIM |
219700
|
| gptkbp:prevalence |
1 in 2500 live births (Caucasians)
|
| gptkbp:symptom |
failure to thrive
chronic cough pancreatic insufficiency recurrent lung infections malabsorption |
| gptkbp:synonym |
gptkb:Mucoviscidosis
Fibrocystic disease of pancreas |
| gptkbp:UMLS_CUI |
C0010674
|
| gptkbp:bfsParent |
gptkb:Hereditary_spastic_paraplegia
|
| gptkbp:bfsLayer |
6
|