|
1
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0002815)
|
Abnormality of the knee |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
5
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0001155)
|
Abnormality of the hand |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
9
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
10
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
11
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
12
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
13
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0001386)
|
Joint swelling |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
18
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
19
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
20
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
21
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
22
|
(HPO:0003071)
|
Flattened epiphysis |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0003371)
|
Enlargement of the proximal femoral epiphysis |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0004576)
|
Sclerotic vertebral endplates |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0004637)
|
Decreased cervical spine mobility |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0006163)
|
Enlarged metacarpophalangeal joints |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0006247)
|
Enlarged interphalangeal joints |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0010580)
|
Enlarged epiphyses |
|
|
|
|
14 / 7739
|
|
29
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
|
30
|
(OMIM)
|
Anterior end-plate erosions |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Periarticular osteoporosis |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Joint space narrowing |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Acetabular irregularity |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Flattened, enlarged epiphyses |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Narrow joint spaces |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Easily fatigued |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Normal sedimentation rate |
|
|
|
|
2 / 7739
|
|
38
|
(MedDRA:10048574)
|
Rheumatoid factor negative |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0003040)
|
Arthropathy |
|
|
|
|
19 / 7739
|