1
|
(HPO:0004437)
|
Cranial hyperostosis |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
2
|
(HPO:0004490)
|
Calvarial hyperostosis |
|
|
|
|
11 / 7739
|
3
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
4
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
5
|
(HPO:0010702)
|
Increased antibody level in blood |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
6
|
(HPO:0010833)
|
Spontaneous pain sensation |
Frequent [Orphanet]
|
|
|
|
4 / 7739
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
8
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
9
|
(HPO:0002015)
|
Dysphagia |
Occasional [Orphanet]
|
|
|
|
301 / 7739
|
10
|
(HPO:0000520)
|
Proptosis |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
11
|
(HPO:0001945)
|
Fever |
Frequent [Orphanet]
|
|
|
|
218 / 7739
|
12
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
13
|
(HPO:0001974)
|
Leukocytosis |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
14
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
15
|
(HPO:0005731)
|
Cortical irregularity |
|
|
|
|
2 / 7739
|
16
|
(HPO:0006465)
|
Periosteal thickening of long tubular bones |
|
|
|
|
3 / 7739
|
17
|
(OMIM)
|
Mild congenital leg curvature |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Identified by x-ray in the fetus in utero |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Cortical hyperostosis |
|
|
|
|
3 / 7739
|
20
|
(OMIM)
|
Curved tibia |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Irregularity of bone cortex |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Thickened periosteum and infiltration of the deeper layers of the periosteum with round cells |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Hot, tender swelling of involved bones (e.g., mandible, ribs) |
|
|
|
|
1 / 7739
|
24
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
25
|
(HPO:0003549)
|
Abnormality of connective tissue |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|