|
1
|
(HPO:0000961)
|
Cyanosis |
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0100760)
|
Clubbing of toes |
|
|
|
|
24 / 7739
|
|
4
|
(HPO:0001901)
|
Polycythemia |
|
|
|
|
16 / 7739
|
|
5
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
6
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
7
|
(HPO:0002105)
|
Hemoptysis |
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
9
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
|
|
28 / 7739
|
|
10
|
(HPO:0012418)
|
Hypoxemia |
|
|
|
|
18 / 7739
|
|
11
|
(HPO:0100749)
|
Chest pain |
|
|
|
|
92 / 7739
|
|
12
|
(OMIM)
|
Dyspnea, progressive |
|
|
|
|
2 / 7739
|
|
13
|
([DEL]MedDRA:10011224)
|
Cough |
|
|
|
|
70 / 7739
|
|
14
|
(OMIM)
|
Alveoli accumulate PAS-positive eosinophilic lipoproteinaceous material |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Accumulation of surfactant protein |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Inspiratory crackles (50%) |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Radiology shows bilateral airspace disease with ill-defined nodular or confluent pattern with perihilar predominance |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Radiology suggestive of pneumonia |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
CT scan shows patchy, ground-glass opacifications with superimposed interlobular septal and intralobular thickening leading to 'crazy paving' pattern |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Pulmonary function tests show restrictive ventilatory defect |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Ventilation-perfusion inequality with intrapulmonary shunting and widened alveolar-arteriolar diffusion gradient |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Bronchoalveolar lavage fluid contains large, foamy macrophages |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Digital clubbing due to chronic hypoxia |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0001063)
|
Acrocyanosis |
|
|
|
|
56 / 7739
|
|
25
|
(OMIM)
|
Serum IgG autoantibodies to granulocyte/macrophage colony-stimulating factor (GM-CSF, CSF2, 138960) |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Defective macrophage function |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Defective neutrophil function |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Secondary respiratory infections |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0100806)
|
Sepsis |
|
|
|
|
48 / 7739
|
|
30
|
(OMIM)
|
Opportunistic infections include Nocardia asteroides and Mycobacterium avium complex |
|
|
|
|
1 / 7739
|