|
1
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
2
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
3
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001697)
|
Abnormality of the pericardium |
Occasional [Orphanet]
|
|
|
|
52 / 7739
|
|
6
|
(HPO:0002617)
|
Aneurysm |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0002653)
|
Bone pain |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0002758)
|
Osteoarthritis |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
11
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
12
|
(HPO:0002857)
|
Genu valgum |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
13
|
(HPO:0002983)
|
Micromelia |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
14
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
15
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
16
|
(HPO:0003042)
|
Elbow dislocation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
17
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
18
|
(HPO:0003067)
|
Madelung deformity |
Frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0003068)
|
Madelung-like forearm deformities |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
frequent [HPO]
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
22
|
(HPO:0006824)
|
Cranial nerve paralysis |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
23
|
(HPO:0010885)
|
Aseptic necrosis |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
24
|
(HPO:0100240)
|
Synostosis of joints |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
|
25
|
(HPO:0100777)
|
Exostoses |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
26
|
(HPO:0010622)
|
Neoplasm of the skeletal system |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
27
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
|
28
|
(HPO:0100769)
|
Synovitis |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
29
|
(HPO:0002763)
|
Abnormal cartilage morphology |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
30
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
31
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Occasional [Orphanet]
|
|
|
|
110 / 7739
|
|
32
|
(HPO:0007256)
|
Abnormal pyramidal signs |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
33
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
34
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
35
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
36
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Occasional [Orphanet]
|
|
|
|
123 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
38
|
(HPO:0000896)
|
Rib exostoses |
|
|
|
|
4 / 7739
|
|
39
|
(HPO:0000918)
|
Scapular exostoses |
|
|
|
|
4 / 7739
|
|
40
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
41
|
(HPO:0002318)
|
Cervical myelopathy |
|
|
|
|
10 / 7739
|
|
42
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
43
|
(HPO:0003105)
|
Protuberances at ends of long bones |
|
|
|
|
3 / 7739
|
|
44
|
(HPO:0003276)
|
Pelvic bone exostoses |
|
|
|
|
4 / 7739
|
|
45
|
(HPO:0003406)
|
Peripheral nerve compression |
|
|
|
|
3 / 7739
|
|
46
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
47
|
(HPO:0006765)
|
Chondrosarcoma |
|
|
|
|
5 / 7739
|
|
48
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|