|
1
|
(HPO:0000093)
|
Proteinuria |
Frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
4
|
(HPO:0000121)
|
Nephrocalcinosis |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
|
5
|
(HPO:0000988)
|
Skin rash |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
6
|
(HPO:0001055)
|
Erysipelas |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001287)
|
Meningitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
9
|
(HPO:0001541)
|
Ascites |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
10
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
11
|
(HPO:0001697)
|
Abnormality of the pericardium |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
12
|
(HPO:0001733)
|
Pancreatitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
13
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
14
|
(HPO:0002014)
|
Diarrhea |
Frequent [Orphanet]
|
|
|
|
225 / 7739
|
|
15
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
16
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
17
|
(HPO:0002024)
|
Malabsorption |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
18
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
19
|
(HPO:0002103)
|
Abnormality of the pleura |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
20
|
(HPO:0002716)
|
Lymphadenopathy |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
21
|
(HPO:0001369)
|
Arthritis |
|
|
|
|
44 / 7739
|
|
22
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
23
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
24
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
25
|
(HPO:0005214)
|
Intestinal obstruction |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
26
|
(HPO:0005244)
|
Gastrointestinal infarctions |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
27
|
(HPO:0006554)
|
Acute hepatic failure |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
|
28
|
(HPO:0010741)
|
Edema of the lower limbs |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
29
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
30
|
(HPO:0100749)
|
Chest pain |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
31
|
(HPO:0100796)
|
Orchitis |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
|
32
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
33
|
(HPO:0011227)
|
Elevated C-reactive protein level |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
34
|
(HPO:0010783)
|
Erythema |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
35
|
(HPO:0012089)
|
Arteritis |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
36
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
37
|
(HPO:0002140)
|
Ischemic stroke |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
38
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
39
|
(HPO:0011442)
|
Abnormality of central motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
40
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
41
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
42
|
(HPO:0001917)
|
Renal amyloidosis |
|
|
|
|
8 / 7739
|
|
43
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
|
44
|
(HPO:0002102)
|
Pleuritis |
|
|
|
|
7 / 7739
|
|
45
|
(HPO:0002586)
|
Peritonitis |
|
|
|
|
4 / 7739
|
|
46
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
47
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
48
|
(HPO:0005764)
|
Polyarticular arthritis |
|
|
|
|
3 / 7739
|