|
1
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
2
|
(HPO:0002653)
|
Bone pain |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0003080)
|
Hydroxyprolinuria |
|
|
|
|
7 / 7739
|
|
5
|
(OMIM)
|
Hearing loss, initially conductive, later mixed conductive-sensorineural |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Resorption of cervical region of the teeth |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Progressive tooth mobility |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Spontaneous tooth fracture |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Early loss of dentition |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Severe bone pain |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Abnormal modeling, onset before focal disease (humerus, radius, ulna, tibia) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Coarse 'fish net' bone trabeculae, onset before focal disease |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Rounded areas of trabecular loss (juxta-articular, metaphyseal, diaphyseal, early stage) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Enlargement of affected area (intermediate stage) |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0003869)
|
Humeral cortical thinning |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Bone expansion (late stage) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Complete loss of trabecular pattern (late stage) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Elevated serum alkaline phosphatase |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
20
|
(HPO:0002753)
|
Thin bony cortex |
|
|
|
|
16 / 7739
|
|
21
|
(HPO:0002797)
|
Osteolysis |
|
|
|
|
68 / 7739
|
|
22
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
23
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|