|
1
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
5
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
6
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
7
|
(HPO:0002758)
|
Osteoarthritis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
8
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
|
10
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
11
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
12
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
13
|
(HPO:0003370)
|
Flat capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
14
|
(HPO:0003508)
|
Proportionate short stature |
|
|
|
|
12 / 7739
|
|
15
|
(OMIM)
|
Stocky body habitus |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Anterior osteophytes |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Vertebral end plate irregularity |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Sclerotic vertebral bodies |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Progressive osteoarthropathy (early-onset) |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|