|
1
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
2
|
(HPO:0000963)
|
Thin skin |
rare [HPO:skoehler]
|
|
|
|
96 / 7739
|
|
3
|
(HPO:0000977)
|
Soft skin |
rare [HPO:skoehler]
|
|
|
|
23 / 7739
|
|
4
|
(HPO:0000978)
|
Bruising susceptibility |
rare [HPO:skoehler]
|
|
|
|
123 / 7739
|
|
5
|
(HPO:0002216)
|
Premature graying of hair |
rare [HPO:skoehler]
|
|
|
|
43 / 7739
|
|
6
|
(HPO:0002669)
|
Osteosarcoma |
|
|
|
|
12 / 7739
|
|
7
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0003084)
|
Fractures of the long bones |
|
|
|
|
5 / 7739
|
|
10
|
(HPO:0003198)
|
Myopathy |
rare [HPO:skoehler]
|
|
|
|
151 / 7739
|
|
11
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
12
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
13
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
14
|
(HPO:0005010)
|
Osteomyelitis leading to amputation due to slow healing fractures |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0005045)
|
Diaphyseal cortical sclerosis |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0005686)
|
Patchy osteosclerosis |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0007819)
|
Presenile cataracts |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0100244)
|
Fibrosarcoma |
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0100254)
|
Stenosis of the medullary cavity of the long bones |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Radiolucency of the bones |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Bony dysplasia |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Pathologic fractures of the long bones |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Patchy sclerotic changes to the long bones |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Coarse, sclerotic trabeculae |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Diaphyseal cortical thickening |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Diaphyseal medullary stenosis |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Metaphyseal striations |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Necrosis in large tubular bone diaphyses |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Narrow medullary cavities |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Marrow necrosis |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Marrow infarctions |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Bowing of the lower extremities |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Soft thin skin |
|
|
|
|
3 / 7739
|
|
34
|
(HPO:0003325)
|
Limb-girdle muscle weakness |
|
|
|
|
22 / 7739
|
|
35
|
(OMIM)
|
Muscle atrophy, proximal and distal |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Distal limb muscle weakness occurs later |
|
|
|
|
3 / 7739
|
|
37
|
(OMIM)
|
Myopathic changes seen on EMG and muscle biopsy |
|
|
|
|
1 / 7739
|
|
38
|
(MedDRA:10025553)
|
Fibrous histiocytomas malignant |
|
|
|
|
1 / 7739
|
|
39
|
(MedDRA:10025552)
|
Malignant fibrous histiocytoma |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Serum alkaline phosphatase normal or mildly increased |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Normal or mildly increased serum creatine kinase |
|
|
|
|
6 / 7739
|
|
42
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
43
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
44
|
(HPO:0012315)
|
Histiocytoma |
|
|
|
|
2 / 7739
|