|
1
|
(HPO:0000961)
|
Cyanosis |
|
|
|
|
60 / 7739
|
|
2
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
6
|
(HPO:0002789)
|
Tachypnea |
|
|
|
|
48 / 7739
|
|
7
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
|
|
32 / 7739
|
|
8
|
(HPO:0006515)
|
Interstitial pneumonitis |
|
|
|
|
13 / 7739
|
|
9
|
(OMIM)
|
Poor weight gain in infancy |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
11
|
(MedDRA:10001881)
|
Alveolar proteinosis |
|
|
|
|
5 / 7739
|
|
12
|
(OMIM)
|
Alveoli filled with granular or foamy surfactant protein exudate |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Alveoli contain desquamated type II pneumocytes and macrophages |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Type II pneumocyte hyperplasia |
|
|
|
|
4 / 7739
|
|
15
|
(OMIM)
|
Type II pneumocytes contain abnormal lamellar bodies |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Interstitial thickening |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Interstitial fibrosis |
|
|
|
|
24 / 7739
|
|
18
|
(OMIM)
|
Cellular nonspecific interstitial pneumonitis |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Usual interstitial pneumonitis |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Areas of fibrosis may develop with longer disease duration |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Radiography shows hazy, ground-glass interstitial opacifications |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Decreased or absent mature surfactant C protein |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Intraalveolar accumulation of abnormal pro-SPC protein |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
26
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
27
|
(HPO:0006517)
|
Alveolar proteinosis |
|
|
|
|
7 / 7739
|