|
1
|
(HPO:0001596)
|
Alopecia |
rare [HPO:skoehler]
|
|
|
|
162 / 7739
|
|
2
|
(HPO:0002289)
|
Alopecia universalis |
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0002748)
|
Rickets |
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0002752)
|
Sparse bone trabeculae |
|
|
|
|
9 / 7739
|
|
6
|
(HPO:0002753)
|
Thin bony cortex |
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
8
|
(HPO:0002970)
|
Genu varum |
|
|
|
|
60 / 7739
|
|
9
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
10
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
11
|
(HPO:0003013)
|
Bulging epiphyses |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
13
|
(HPO:0003152)
|
Increased serum 1,25-dihydroxyvitamin D3 |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
|
15
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
Occasional [HPO:probinson]
|
|
|
|
17 / 7739
|
|
16
|
(HPO:0006462)
|
Generalized bone demineralization |
|
|
|
|
11 / 7739
|
|
17
|
(HPO:0006463)
|
Rickets of the lower limbs |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0010502)
|
Fibular bowing |
|
|
|
|
8 / 7739
|
|
19
|
(HPO:0002814)
|
Abnormality of the lower limb |
|
|
|
|
23 / 7739
|
|
20
|
(HPO:0010580)
|
Enlarged epiphyses |
|
|
|
|
14 / 7739
|
|
21
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
|
22
|
(OMIM)
|
Curvatures of the femur, tibia, fibula |
|
|
|
|
8 / 7739
|
|
23
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
24
|
(HPO:0005059)
|
Arthralgia/arthritis |
|
|
|
|
141 / 7739
|
|
25
|
(HPO:0001006)
|
Hypotrichosis |
|
|
|
|
219 / 7739
|
|
26
|
(HPO:0004528)
|
Generalized hypotrichosis |
|
|
|
|
18 / 7739
|
|
27
|
(OMIM)
|
No alopecia (in one family with >200 affected individuals) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Low to normal serum calcium |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
May have increased serum parathyroid hormone (PTH) |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
31
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|