1
|
(HPO:0001637)
|
Abnormality of the myocardium |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
2
|
(HPO:0100781)
|
Abnormality of the sacroiliac joint |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
3
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
4
|
(HPO:0002141)
|
Gait imbalance |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
5
|
(HPO:0100614)
|
Myositis |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
6
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
7
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
8
|
(HPO:0002315)
|
Headache |
Occasional [Orphanet]
|
|
|
|
175 / 7739
|
9
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
10
|
(HPO:0005214)
|
Intestinal obstruction |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
11
|
(HPO:0100537)
|
Fasciitis |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
12
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
13
|
(HPO:0000988)
|
Skin rash |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
14
|
(HPO:0100749)
|
Chest pain |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
15
|
(HPO:0003565)
|
Elevated erythrocyte sedimentation rate |
|
|
|
|
31 / 7739
|
16
|
(HPO:0011227)
|
Elevated C-reactive protein level |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
17
|
(HPO:0100796)
|
Orchitis |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
18
|
(HPO:0002103)
|
Abnormality of the pleura |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
19
|
(HPO:0000978)
|
Bruising susceptibility |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
20
|
(HPO:0002027)
|
Abdominal pain |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
21
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
22
|
(HPO:0010783)
|
Erythema |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
23
|
(HPO:0012089)
|
Arteritis |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
24
|
(HPO:0001697)
|
Abnormality of the pericardium |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
25
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
26
|
(HPO:0100776)
|
Recurrent pharyngitis |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
27
|
(HPO:0100592)
|
Peritoneal abscess |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
28
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
29
|
(HPO:0001945)
|
Fever |
Very frequent [Orphanet]
|
|
|
|
218 / 7739
|
30
|
(HPO:0001055)
|
Erysipelas |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
31
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
32
|
(HPO:0001974)
|
Leukocytosis |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
33
|
(HPO:0000969)
|
Edema |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
34
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
35
|
(HPO:0003552)
|
Muscle stiffness |
|
|
|
|
23 / 7739
|
36
|
(HPO:0011034)
|
Amyloidosis |
|
|
|
|
12 / 7739
|
37
|
(HPO:0012280)
|
Hepatic amyloidosis |
|
|
|
|
4 / 7739
|
38
|
(HPO:0100533)
|
Inflammatory abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
39
|
(HPO:0100539)
|
Periorbital edema |
|
|
|
|
8 / 7739
|
40
|
(MedDRA:10038189)
|
Red eye |
|
|
|
|
2 / 7739
|
41
|
(MedDRA:10035623)
|
Pleuritic pain |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Recurrent abdominal pain |
|
|
|
|
3 / 7739
|
43
|
(OMIM)
|
Migratory rashes, painful |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Fever, periodic, recurrent |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Systemic amyloidosis may occur |
|
|
|
|
1 / 7739
|
46
|
(HPO:0100665)
|
Angioedema |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
47
|
(HPO:0001596)
|
Alopecia |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
48
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
49
|
(HPO:0003549)
|
Abnormality of connective tissue |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
50
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
51
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
52
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
53
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
54
|
(HPO:0030350)
|
Erythematous papule |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
55
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
56
|
(HPO:0002621)
|
Atherosclerosis |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
57
|
(HPO:0001677)
|
Coronary artery disease |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
58
|
(HPO:0002014)
|
Diarrhea |
Occasional [Orphanet]
|
|
|
|
225 / 7739
|
59
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
60
|
(HPO:0000763)
|
Sensory neuropathy |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
61
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|