|
1
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
3
|
(HPO:0001080)
|
Biliary tract abnormality |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
4
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
5
|
(HPO:0002206)
|
Pulmonary fibrosis |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
6
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0001648)
|
Cor pulmonale |
|
|
|
|
16 / 7739
|
|
9
|
(HPO:0001738)
|
Exocrine pancreatic insufficiency |
common [HPO]
|
|
|
|
23 / 7739
|
|
10
|
(HPO:0001944)
|
Dehydration |
Rare [HPO:skoehler]
|
|
|
|
59 / 7739
|
|
11
|
(HPO:0002035)
|
Rectal prolapse |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0002099)
|
Asthma |
|
|
|
|
62 / 7739
|
|
13
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
|
14
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
|
15
|
(HPO:0002613)
|
Biliary cirrhosis |
|
|
|
|
11 / 7739
|
|
16
|
(HPO:0003251)
|
Male infertility |
|
|
|
|
14 / 7739
|
|
17
|
(HPO:0004401)
|
Meconium ileus |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0006528)
|
Chronic lung disease |
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
|
|
48 / 7739
|
|
20
|
(HPO:0006538)
|
Recurrent bronchopulmonary infections |
|
|
|
|
6 / 7739
|
|
21
|
(HPO:0012236)
|
Elevated sweat chloride |
|
|
|
|
5 / 7739
|
|
22
|
(OMIM)
|
Chronic bronchopulmonary infection |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Pulmonary blebs |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Pseudomonas colonization |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Pancreatic insufficiency in 80% |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Adenocarcinoma of the ileum |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Male infertility (98%) due to congenital bilateral absence of the vas deferens (CBAVD) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Female decreased fertility due to thickened cervical secretions and chronic lung disease |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
High sweat sodium and chloride |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Hyponatremic dehydration, rarely |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Abnormal nasal potential differences |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
High newborn serum levels of immunoreactive trypsinogen |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
34
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|