1
|
(HPO:0002653)
|
Bone pain |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
2
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
3
|
(HPO:0000826)
|
Precocious puberty |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
4
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
5
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
6
|
(HPO:0100764)
|
Lymphangioma |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
7
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
8
|
(HPO:0200042)
|
Skin ulcer |
Occasional [Orphanet]
|
|
|
|
138 / 7739
|
9
|
(HPO:0100242)
|
Sarcoma |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
10
|
(HPO:0003010)
|
Prolonged bleeding time |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
11
|
(HPO:0000926)
|
Platyspondyly |
Occasional [Orphanet]
|
|
|
|
150 / 7739
|
12
|
(HPO:0100615)
|
Ovarian neoplasm |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
13
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
14
|
(HPO:0002763)
|
Abnormal cartilage morphology |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
15
|
(HPO:0004936)
|
Venous thrombosis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
16
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
17
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
18
|
(HPO:0001048)
|
Cavernous hemangioma |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
19
|
(HPO:0100761)
|
Visceral angiomatosis |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
20
|
(HPO:0005701)
|
Multiple enchondromatosis |
|
|
|
|
11 / 7739
|
21
|
(HPO:0006765)
|
Chondrosarcoma |
|
|
|
|
5 / 7739
|
22
|
(OMIM)
|
Ovarian juvenile granulosa cell tumor with precocious pseudopuberty |
|
|
|
|
1 / 7739
|
23
|
(MedDRA:10069069)
|
Enchondroma |
|
|
|
|
2 / 7739
|
24
|
(OMIM)
|
Osteochondromatosis |
|
|
|
|
2 / 7739
|
25
|
(OMIM)
|
Asymmetric tubular bone abnormality |
|
|
|
|
1 / 7739
|
26
|
(HPO:0001028)
|
Hemangioma |
|
|
|
|
23 / 7739
|
27
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|