|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000964)
|
Eczema |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0000976)
|
Eczematoid dermatitis |
|
|
|
|
22 / 7739
|
|
4
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
5
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
|
7
|
(HPO:0100760)
|
Clubbing of toes |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
8
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
9
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
11
|
(HPO:0005059)
|
Arthralgia/arthritis |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
12
|
(HPO:0001369)
|
Arthritis |
|
|
|
|
44 / 7739
|
|
13
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
14
|
(HPO:0002815)
|
Abnormality of the knee |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0002992)
|
Abnormality of the tibia |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
16
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
17
|
(HPO:0000929)
|
Abnormality of the skull |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
18
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
19
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
20
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
21
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
22
|
(HPO:0000890)
|
Long clavicles |
|
|
|
|
13 / 7739
|
|
23
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
24
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
25
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
26
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
27
|
(HPO:0001051)
|
Seborrheic dermatitis |
|
|
|
|
25 / 7739
|
|
28
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
|
|
27 / 7739
|
|
29
|
(HPO:0001519)
|
Disproportionate tall stature |
|
|
|
|
39 / 7739
|
|
30
|
(HPO:0001582)
|
Redundant skin |
|
|
|
|
51 / 7739
|
|
31
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
32
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
33
|
(HPO:0002684)
|
Thickened calvaria |
|
|
|
|
32 / 7739
|
|
34
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
|
35
|
(OMIM)
|
Furrowing of the forehead |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Prominent facial folds |
|
|
|
|
1 / 7739
|
|
37
|
(MedDRA:10072719)
|
Eyelid thickening |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Swollen joints |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Delayed closure of the fontanel |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Periosteal bone formation |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Subperiosteal ossification |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Expanded diaphyses |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Expanded metaphyses |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Enlargement of the hands |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Enlargement of the feet |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Thickened, furrowed skin |
|
|
|
|
1 / 7739
|
|
47
|
(MedDRA:10016825)
|
Flushing |
|
|
|
|
2 / 7739
|
|
48
|
(OMIM)
|
Turtle-backed nails |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Increased urinary prostaglandin E2 |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0009466)
|
Radial deviation of finger |
Occasional [Orphanet]
|
|
|
|
101 / 7739
|
|
51
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
52
|
(HPO:0003040)
|
Arthropathy |
|
|
|
|
19 / 7739
|
|
53
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|