|
1
|
(HPO:0000246)
|
Sinusitis |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
3
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
4
|
(HPO:0001878)
|
Hemolytic anemia |
Frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
5
|
(HPO:0001882)
|
Leukopenia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
6
|
(HPO:0001888)
|
Lymphopenia |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
8
|
(HPO:0002024)
|
Malabsorption |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
9
|
(HPO:0002091)
|
Restrictive ventilatory defect |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
10
|
(HPO:0002097)
|
Emphysema |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
11
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
12
|
(HPO:0002665)
|
Lymphoma |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
13
|
(HPO:0002716)
|
Lymphadenopathy |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
14
|
(HPO:0005059)
|
Arthralgia/arthritis |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
15
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
16
|
(HPO:0006753)
|
Neoplasm of the stomach |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
|
17
|
(HPO:0100723)
|
Gastrointestinal stroma tumor |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0002110)
|
Bronchiectasis |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
19
|
(HPO:0011227)
|
Elevated C-reactive protein level |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
20
|
(HPO:0001080)
|
Biliary tract abnormality |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
21
|
(HPO:0000389)
|
Chronic otitis media |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
22
|
(HPO:0012089)
|
Arteritis |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
23
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
24
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
|
25
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
28
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
29
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
30
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|