1
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
20143182
|
IBIS
|
147 / 7739
|
2
|
(HPO:0001009)
|
Telangiectasia |
Very frequent [IBIS]
|
|
24142114
|
IBIS
|
46 / 7739
|
3
|
(HPO:0002015)
|
Dysphagia |
Very frequent [IBIS]
Frequent [Orphanet]
|
|
24142114
|
IBIS
|
301 / 7739
|
4
|
(HPO:0011838)
|
Sclerodactyly |
Very frequent [IBIS]
|
|
24142114
|
IBIS
|
8 / 7739
|
5
|
(OMIM)
|
Raynaud syndrome |
Very frequent [IBIS]
|
|
24142114
|
IBIS
|
3 / 7739
|
6
|
(HPO:0003761)
|
Calcinosis |
Frequent [IBIS]
|
|
24142114
|
IBIS
|
12 / 7739
|
7
|
(HPO:0002725)
|
Systemic lupus erythematosus |
Occasional [IBIS]
|
11.1% (n=54)
|
2833902
|
IBIS
|
14 / 7739
|
8
|
(HPO:0100614)
|
Myositis |
Rare [IBIS]
|
5.6 % (n=54)
|
2833902
|
IBIS
|
21 / 7739
|
9
|
(HPO:0001370)
|
Rheumatoid arthritis |
Rare [IBIS]
|
5.6 % (n=54)
|
2833902
|
IBIS
|
12 / 7739
|
10
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [Orphanet]
|
|
11669165
|
IBIS
|
109 / 7739
|
11
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
16278765
|
IBIS
|
138 / 7739
|
12
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
16278765
|
IBIS
|
410 / 7739
|
13
|
(HPO:0002592)
|
Gastric ulcer |
Very frequent [Orphanet]
|
|
9732924
|
IBIS
|
39 / 7739
|
14
|
(HPO:0100579)
|
Mucosal telangiectasiae |
Frequent [Orphanet]
|
|
9732924
|
IBIS
|
10 / 7739
|
15
|
(HPO:0100585)
|
Telangiectasia of the skin |
Frequent [Orphanet]
|
|
16278765
|
IBIS
|
66 / 7739
|
16
|
(HPO:0002960)
|
Autoimmunity |
Very frequent [Orphanet]
|
|
16278765
|
IBIS
|
78 / 7739
|
17
|
(HPO:0000969)
|
Edema |
Very frequent [Orphanet]
|
|
16278765
|
IBIS
|
117 / 7739
|
18
|
(HPO:0100324)
|
Scleroderma |
|
|
16278765
|
IBIS
|
6 / 7739
|
19
|
(OMIM)
|
Anticentromere and other antibodies |
|
|
2833902
|
IBIS
|
1 / 7739
|
20
|
(MedDRA:10061156)
|
Finger deformity |
|
|
24142114
|
IBIS
|
5 / 7739
|
21
|
(MedDRA:10042953)
|
Systemic sclerosis |
|
|
24142114
|
IBIS
|
1 / 7739
|
22
|
(HPO:0002633)
|
Vasculitis |
|
|
22387650
|
IBIS
|
12 / 7739
|
23
|
(HPO:0040078)
|
Axonal degeneration |
|
|
22387650
|
IBIS
|
10 / 7739
|
24
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
22387650
|
IBIS
|
27 / 7739
|
25
|
(HPO:0001337)
|
Tremor |
|
|
22387650
|
IBIS
|
200 / 7739
|
26
|
(HPO:0001251)
|
Ataxia |
|
|
22387650
|
IBIS
|
413 / 7739
|
27
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
21982887
|
IBIS
|
224 / 7739
|
28
|
(MedDRA:10052178)
|
Lymphocytic lymphoma |
|
|
21982887
|
IBIS
|
2 / 7739
|
29
|
(HPO:0000980)
|
Pallor |
|
|
20143182
|
IBIS
|
52 / 7739
|
30
|
(HPO:0000961)
|
Cyanosis |
|
|
20143182
|
IBIS
|
60 / 7739
|
31
|
(HPO:0010783)
|
Erythema |
|
|
20143182
|
IBIS
|
138 / 7739
|
32
|
(HPO:0002829)
|
Arthralgia |
|
|
24142114
|
IBIS
|
79 / 7739
|
33
|
(HPO:0001324)
|
Muscle weakness |
|
|
24142114
|
IBIS
|
859 / 7739
|
34
|
(HPO:0011675)
|
Arrhythmia |
|
|
24142114
|
IBIS
|
226 / 7739
|
35
|
(HPO:0002613)
|
Biliary cirrhosis |
|
|
24142114
|
IBIS
|
11 / 7739
|
36
|
(MedDRA:10007697)
|
Carpal tunnel syndrome |
|
|
24142114
|
IBIS
|
16 / 7739
|
37
|
(HPO:0012181)
|
Entrapment neuropathy |
|
|
24142114
|
IBIS
|
1 / 7739
|
38
|
(OMIM)
|
Increased risk for cancer |
|
|
24142114
|
IBIS
|
3 / 7739
|
39
|
(HPO:0001072)
|
Thickened skin |
|
|
24142114
|
IBIS
|
87 / 7739
|
40
|
(MedDRA:10068057)
|
Dependent rubor |
|
|
24142114
|
IBIS
|
1 / 7739
|
41
|
(HPO:0012531)
|
Pain |
|
|
24142114
|
IBIS
|
9 / 7739
|
42
|
(HPO:0003401)
|
Paresthesia |
|
|
24142114
|
IBIS
|
42 / 7739
|
43
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
27169738
|
IBIS
|
76 / 7739
|
44
|
(HPO:0001697)
|
Abnormality of the pericardium |
|
|
27169738
|
IBIS
|
52 / 7739
|
45
|
(HPO:0004930)
|
Abnormality of the pulmonary vasculature |
|
|
27169738
|
IBIS
|
3 / 7739
|
46
|
(HPO:0000988)
|
Skin rash |
|
|
16278765
|
IBIS
|
98 / 7739
|
47
|
(MedDRA:10016642)
|
Fibrosis |
|
|
16278765
|
IBIS
|
9 / 7739
|
48
|
(HPO:0100771)
|
Hypoperistalsis |
|
|
16278765
|
IBIS
|
5 / 7739
|
49
|
(HPO:0100633)
|
Esophagitis |
|
|
16278765
|
IBIS
|
7 / 7739
|
50
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
16278765
|
IBIS
|
101 / 7739
|
51
|
(OMIM)
|
Edema, nonpitting |
|
|
16278765
|
IBIS
|
3 / 7739
|
52
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
|
|
9732924
|
IBIS
|
97 / 7739
|
53
|
(HPO:0005263)
|
Gastritis |
|
|
9732924
|
IBIS
|
9 / 7739
|
54
|
(HPO:0002027)
|
Abdominal pain |
|
|
26607041
|
IBIS
|
184 / 7739
|
55
|
(HPO:0030151)
|
Cholangitis |
|
|
26607041
|
IBIS
|
10 / 7739
|
56
|
(HPO:0012378)
|
Fatigue |
|
|
26607041
|
IBIS
|
50 / 7739
|
57
|
(HPO:0004398)
|
Peptic ulcer |
|
|
9732924
|
IBIS
|
7 / 7739
|