|
1
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0006824)
|
Cranial nerve paralysis |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
4
|
(HPO:0100777)
|
Exostoses |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
5
|
(HPO:0005701)
|
Multiple enchondromatosis |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
7
|
(HPO:0010885)
|
Aseptic necrosis |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
8
|
(HPO:0001367)
|
Abnormal joint morphology |
|
|
|
|
53 / 7739
|
|
9
|
(HPO:0005655)
|
Multiple digital exostoses |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
|
11
|
(OMIM)
|
Multiple exostoses, esp. digits |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Striations in metaphyses of long bones and iliac crests |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
No joint deformity, or subluxation |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|