|
1
|
(HPO:0000389)
|
Chronic otitis media |
|
|
|
|
64 / 7739
|
|
2
|
(HPO:0001083)
|
Ectopia lentis |
|
|
|
|
45 / 7739
|
|
3
|
(HPO:0002097)
|
Emphysema |
|
|
|
|
40 / 7739
|
|
4
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
|
5
|
(HPO:0002837)
|
Recurrent bronchitis |
|
|
|
|
21 / 7739
|
|
6
|
(HPO:0011109)
|
Chronic sinusitis |
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0011950)
|
Bronchiolitis |
|
|
|
|
8 / 7739
|
|
8
|
(HPO:0100582)
|
Nasal polyposis |
|
|
|
|
14 / 7739
|
|
9
|
(HPO:0200042)
|
Skin ulcer |
|
|
|
|
138 / 7739
|
|
10
|
(HPO:0000246)
|
Sinusitis |
|
|
|
|
73 / 7739
|
|
11
|
(OMIM)
|
Unilateral bronchiectasis |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Bilateral bronchiectasis |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0012387)
|
Bronchitis |
|
|
|
|
8 / 7739
|
|
14
|
(MedDRA:10006440)
|
Bronchial obstruction |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Bacterial infections of the respiratory tract |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Localized cutaneous necrobiosis lipoidica |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Pigmentary abnormalities |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Deep skin ulcers |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Normal CD8+/CD4+ ratio |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|