1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
3
|
(HPO:0001287)
|
Meningitis |
|
|
|
|
46 / 7739
|
4
|
(HPO:0001369)
|
Arthritis |
|
|
|
|
44 / 7739
|
5
|
(HPO:0001701)
|
Pericarditis |
|
|
|
|
13 / 7739
|
6
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
7
|
(HPO:0001917)
|
Renal amyloidosis |
|
|
|
|
8 / 7739
|
8
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
9
|
(HPO:0001974)
|
Leukocytosis |
|
|
|
|
33 / 7739
|
10
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
11
|
(HPO:0002102)
|
Pleuritis |
|
|
|
|
7 / 7739
|
12
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
13
|
(HPO:0002586)
|
Peritonitis |
|
|
|
|
4 / 7739
|
14
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
15
|
(HPO:0003565)
|
Elevated erythrocyte sedimentation rate |
|
|
|
|
31 / 7739
|
16
|
(OMIM)
|
Tunica vaginalis inflammation (orchitis) |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Monarticular or oligoarticular arthritis |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Transient painful erysipelas-like lesions on lower leg and ankle |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Prominent leukocytosis (30,000/ml) |
|
|
|
|
1 / 7739
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|