1
|
(HPO:0000114)
|
Proximal tubulopathy |
|
|
|
|
18 / 7739
|
2
|
(HPO:0000117)
|
Renal phosphate wasting |
|
|
|
|
14 / 7739
|
3
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
4
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
|
|
78 / 7739
|
5
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
|
|
43 / 7739
|
6
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
7
|
(HPO:0002653)
|
Bone pain |
|
|
|
|
75 / 7739
|
8
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
9
|
(HPO:0002748)
|
Rickets |
|
|
|
|
41 / 7739
|
10
|
(HPO:0002749)
|
Osteomalacia |
|
|
|
|
24 / 7739
|
11
|
(HPO:0002752)
|
Sparse bone trabeculae |
|
|
|
|
9 / 7739
|
12
|
(HPO:0002753)
|
Thin bony cortex |
|
|
|
|
16 / 7739
|
13
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
14
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
15
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
16
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
17
|
(HPO:0003013)
|
Bulging epiphyses |
|
|
|
|
9 / 7739
|
18
|
(HPO:0003020)
|
Enlargement of the wrists |
|
|
|
|
9 / 7739
|
19
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
20
|
(HPO:0003029)
|
Enlargement of the ankles |
|
|
|
|
8 / 7739
|
21
|
(HPO:0003126)
|
Low-molecular-weight proteinuria |
|
|
|
|
7 / 7739
|
22
|
(HPO:0003152)
|
Increased serum 1,25-dihydroxyvitamin D3 |
|
|
|
|
7 / 7739
|
23
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
24
|
(HPO:0004912)
|
Hypophosphatemic rickets |
|
|
|
|
13 / 7739
|
25
|
(HPO:0010502)
|
Fibular bowing |
|
|
|
|
8 / 7739
|
26
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
|
|
32 / 7739
|
27
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
28
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
29
|
(HPO:0010580)
|
Enlarged epiphyses |
|
|
|
|
14 / 7739
|
30
|
(HPO:0002814)
|
Abnormality of the lower limb |
|
|
|
|
23 / 7739
|
31
|
(OMIM)
|
Curvatures of the femur, tibia, fibula |
|
|
|
|
8 / 7739
|
32
|
(OMIM)
|
[DEL]Appropriately increased serum 1,25-dihydroxyvitamin D3 |
|
|
|
|
2 / 7739
|
33
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
34
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|