|
1
|
(HPO:0002664)
|
Neoplasm |
|
|
|
|
111 / 7739
|
|
2
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
3
|
(OMIM)
|
Adamantinoma of long bones |
|
|
|
|
1 / 7739
|
|
4
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
5
|
(HPO:0012062)
|
Bone cyst |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
6
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
7
|
(HPO:0002896)
|
Neoplasm of the liver |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
8
|
(HPO:0002823)
|
Abnormality of the femur |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
9
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
10
|
(HPO:0030448)
|
Soft tissue sarcoma |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
11
|
(HPO:0002991)
|
Abnormality of the fibula |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
12
|
(HPO:0002716)
|
Lymphadenopathy |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
13
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
14
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
15
|
(HPO:0002818)
|
Abnormality of the radius |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
18
|
(HPO:0100526)
|
Neoplasm of the lung |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
19
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
20
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
21
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
|
22
|
(HPO:0003063)
|
Abnormality of the humerus |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|