|
1
|
(HPO:0002273)
|
Tetraparesis |
|
|
|
|
15 / 7739
|
|
2
|
(HPO:0002385)
|
Paraparesis |
|
|
|
|
12 / 7739
|
|
3
|
(HPO:0002423)
|
Long-tract signs |
|
|
|
|
7 / 7739
|
|
4
|
(HPO:0002512)
|
Brain stem compression |
|
|
|
|
2 / 7739
|
|
5
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
6
|
(HPO:0002653)
|
Bone pain |
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
|
8
|
(HPO:0002797)
|
Osteolysis |
|
|
|
|
68 / 7739
|
|
9
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
|
|
14 / 7739
|
|
10
|
(HPO:0003080)
|
Hydroxyprolinuria |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0003084)
|
Fractures of the long bones |
|
|
|
|
5 / 7739
|
|
12
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
13
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
|
14
|
(HPO:0008513)
|
Bilateral conductive hearing impairment |
40% [HPO:probinson]
|
|
|
|
11 / 7739
|
|
15
|
(OMIM)
|
Deafness in 30-50% of patients with skull involvement |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Mixed regions of osteosclerosis and osteolysis |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Abnormal uptake of radio-labelled bisphosphates in affected sites on bone scan |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Deformity or enlargement of bones |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0002758)
|
Osteoarthritis |
|
|
|
|
78 / 7739
|
|
20
|
(OMIM)
|
Most commonly affected site |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Percentage of bone-derived alkaline phosphatase is >60% in patients versus 40% in healthy adult subjects |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
23
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|