1
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
2
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
3
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
4
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
5
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
6
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
7
|
(HPO:0006824)
|
Cranial nerve paralysis |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
8
|
(HPO:0100784)
|
Peripheral arteriovenous fistula |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
9
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
10
|
(HPO:0001072)
|
Thickened skin |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
11
|
(HPO:0100559)
|
Lower limb asymmetry |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
12
|
(HPO:0100249)
|
Calcification of muscles |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
13
|
(HPO:0100774)
|
Hyperostosis |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
14
|
(HPO:0005059)
|
Arthralgia/arthritis |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
15
|
(HPO:0100769)
|
Synovitis |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
16
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
17
|
(HPO:0000987)
|
Atypical scarring of skin |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
18
|
(OMIM)
|
Contractures over affected bones |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Flexion deformities over affected bones |
|
|
|
|
1 / 7739
|
20
|
(MedDRA:10050284)
|
Melorheostosis |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Flowing hyperostosis of bone cortex |
|
|
|
|
1 / 7739
|
22
|
(HPO:0003034)
|
Diaphyseal sclerosis |
|
|
|
|
10 / 7739
|
23
|
(OMIM)
|
Skin atrophy over affected bones |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Sclerotic soft tissue over affected bones |
|
|
|
|
1 / 7739
|
25
|
(HPO:0002817)
|
Abnormality of the upper limb |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
26
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
27
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|