|
1
|
(HPO:0003126)
|
Low-molecular-weight proteinuria |
Very frequent [IBIS]
|
99% (n=111)
|
25907713; 20946626; 25852908
|
IBIS
|
7 / 7739
|
|
2
|
(HPO:0002150)
|
Hypercalciuria |
Very frequent [IBIS]
|
88% (n=99)
|
25907713
|
IBIS
|
45 / 7739
|
|
3
|
(HPO:0000121)
|
Nephrocalcinosis |
Frequent [IBIS]
|
61% (n=102)
|
25907713
|
IBIS
|
57 / 7739
|
|
4
|
(HPO:0003355)
|
Aminoaciduria |
Frequent [IBIS]
|
61% (n=39)
|
25907713
|
IBIS
|
65 / 7739
|
|
5
|
(HPO:0002148)
|
Hypophosphatemia |
Frequent [IBIS]
|
54% (n=76)
|
25907713; 25852908
|
IBIS
|
43 / 7739
|
|
6
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [IBIS]
|
47% (n=110)
|
25907713; 27117801; 25852908
|
IBIS
|
232 / 7739
|
|
7
|
(HPO:0003076)
|
Glycosuria |
Frequent [IBIS]
|
40% (n=70)
|
25907713
|
IBIS
|
32 / 7739
|
|
8
|
(HPO:0002900)
|
Hypokalemia |
Frequent [IBIS]
|
39% (n=86)
|
25907713; 25852908
|
IBIS
|
45 / 7739
|
|
9
|
(HPO:0003537)
|
Hypouricemia |
Frequent [IBIS]
|
34% (n=38)
|
25907713
|
IBIS
|
13 / 7739
|
|
10
|
(HPO:0000787)
|
Nephrolithiasis |
Frequent [IBIS]
|
33% (n=91)
|
25852908
|
IBIS
|
78 / 7739
|
|
11
|
(HPO:0002748)
|
Rickets |
Occasional [IBIS]
|
15% (n=93)
|
25852908
|
IBIS
|
41 / 7739
|
|
12
|
(HPO:0001942)
|
Metabolic acidosis |
Occasional [IBIS]
|
13% (n=68)
|
25907713
|
IBIS
|
81 / 7739
|
|
13
|
(HPO:0002757)
|
Recurrent fractures |
|
|
7922301
|
IBIS
|
47 / 7739
|
|
14
|
(HPO:0001947)
|
Renal tubular acidosis |
|
|
25852908
|
IBIS
|
21 / 7739
|
|
15
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
25907713
|
IBIS
|
56 / 7739
|
|
16
|
(HPO:0000092)
|
Tubular atrophy |
|
|
25852908
|
IBIS
|
28 / 7739
|
|
17
|
(HPO:0000662)
|
Nyctalopia |
|
|
20946626
|
IBIS
|
92 / 7739
|
|
18
|
(HPO:0001510)
|
Growth delay |
|
|
25852908
|
IBIS
|
295 / 7739
|
|
19
|
(HPO:0000114)
|
Proximal tubulopathy |
|
|
25907713
|
IBIS
|
18 / 7739
|
|
20
|
(HPO:0002979)
|
Bowing of the legs |
|
|
7922301
|
IBIS
|
28 / 7739
|
|
21
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
25852908
|
IBIS
|
32 / 7739
|
|
22
|
(HPO:0012213)
|
Decreased glomerular filtration rate |
|
|
27342959
|
IBIS
|
21 / 7739
|
|
23
|
(HPO:0003028)
|
Abnormality of the ankles |
|
|
7922301
|
IBIS
|
14 / 7739
|
|
24
|
(HPO:0000096)
|
Glomerulosclerosis |
|
|
25852908
|
IBIS
|
11 / 7739
|
|
25
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
25907713
|
IBIS
|
32 / 7739
|
|
26
|
(HPO:0003019)
|
Abnormality of the wrist |
|
|
7922301
|
IBIS
|
52 / 7739
|
|
27
|
(HPO:0003152)
|
Increased serum 1,25-dihydroxyvitamin D3 |
|
|
7703383
|
IBIS
|
7 / 7739
|
|
28
|
(HPO:0003109)
|
Hyperphosphaturia |
|
|
25852908
|
IBIS
|
18 / 7739
|
|
29
|
(HPO:0002907)
|
Microscopic hematuria |
|
|
25907713; 25852908
|
IBIS
|
27 / 7739
|
|
30
|
(HPO:0004905)
|
Vitamin A deficiency |
|
|
22350370
|
IBIS
|
3 / 7739
|
|
31
|
(HPO:0002653)
|
Bone pain |
|
|
7922301
|
IBIS
|
75 / 7739
|
|
32
|
(HPO:0002749)
|
Osteomalacia |
|
|
25852908
|
IBIS
|
24 / 7739
|
|
33
|
(HPO:0002027)
|
Abdominal pain |
|
|
20946626
|
IBIS
|
184 / 7739
|
|
34
|
(HPO:0004349)
|
Reduced bone mineral density |
|
|
7922301
|
IBIS
|
165 / 7739
|
|
35
|
(HPO:0001994)
|
Renal Fanconi syndrome |
|
|
25852908
|
IBIS
|
12 / 7739
|
|
36
|
(HPO:0000103)
|
Polyuria |
|
|
25907713
|
IBIS
|
60 / 7739
|
|
37
|
(HPO:0001959)
|
Polydipsia |
|
|
25907713
|
IBIS
|
43 / 7739
|
|
38
|
(HPO:0001508)
|
Failure to thrive |
|
|
25907713
|
IBIS
|
454 / 7739
|
|
39
|
(HPO:0002857)
|
Genu valgum |
|
|
7922301
|
IBIS
|
144 / 7739
|