|
1
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
2
|
(HPO:0001394)
|
Cirrhosis |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
3
|
(HPO:0200042)
|
Skin ulcer |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
4
|
(HPO:0002383)
|
Encephalitis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0100585)
|
Telangiectasia of the skin |
Frequent [Orphanet]
|
|
|
|
66 / 7739
|
|
7
|
(HPO:0001097)
|
Keratoconjunctivitis sicca |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
9
|
(HPO:0100679)
|
Lack of skin elasticity |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
10
|
(HPO:0000988)
|
Skin rash |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
11
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
12
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
13
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
14
|
(HPO:0001541)
|
Ascites |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
15
|
(HPO:0000989)
|
Pruritus |
Very frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
16
|
(HPO:0002592)
|
Gastric ulcer |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
17
|
(HPO:0100579)
|
Mucosal telangiectasiae |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
18
|
(HPO:0000217)
|
Xerostomia |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
19
|
(HPO:0001063)
|
Acrocyanosis |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
20
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
21
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
22
|
(HPO:0001945)
|
Fever |
Frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
23
|
(HPO:0000214)
|
Lip telangiectasia |
|
|
|
|
6 / 7739
|
|
24
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
25
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
|
|
|
|
97 / 7739
|
|
26
|
(HPO:0002570)
|
Steatorrhea |
|
|
|
|
31 / 7739
|
|
27
|
(HPO:0002613)
|
Biliary cirrhosis |
|
|
|
|
11 / 7739
|
|
28
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
|
|
32 / 7739
|
|
29
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
30
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
31
|
(HPO:0003761)
|
Calcinosis |
|
|
|
|
12 / 7739
|
|
32
|
(HPO:0011838)
|
Sclerodactyly |
|
|
|
|
8 / 7739
|
|
33
|
(HPO:0100725)
|
Lichenification |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
34
|
(HPO:0100869)
|
Palmar telangiectasia |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Absence of cholangioles |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Inflammatory cell infiltrate |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Destruction of the limiting plate |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Decreased esophageal peristalsis |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Upper gastrointestinal bleeding |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Steatorrhea, mild |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Telangiectasia, particularly of the fingerpads and lips |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Calcinosis cutis |
|
|
|
|
2 / 7739
|
|
43
|
(OMIM)
|
Blanching of the fingers in response to cold |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Numbness, pain, and tingling of the fingers in response to cold |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Generalized darkening of the skin |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Tight, shiny skin over the forearms and hands |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
|
|
53 / 7739
|
|
48
|
(OMIM)
|
Serum mitochondrial autoantibodies |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Stiff skin |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
50
|
(HPO:0002577)
|
Abnormality of the stomach |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
51
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
52
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|