1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
25492894
|
IBIS
|
232 / 7739
|
2
|
(HPO:0000114)
|
Proximal tubulopathy |
|
|
20335586
|
IBIS
|
18 / 7739
|
3
|
(HPO:0000938)
|
Osteopenia |
|
|
20335586
|
IBIS
|
138 / 7739
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
2842681
|
IBIS
|
990 / 7739
|
5
|
(HPO:0002148)
|
Hypophosphatemia |
|
|
25492894
|
IBIS
|
43 / 7739
|
6
|
(HPO:0002150)
|
Hypercalciuria |
|
|
2842681
|
IBIS
|
45 / 7739
|
7
|
(HPO:0002748)
|
Rickets |
|
|
20335586
|
IBIS
|
41 / 7739
|
8
|
(HPO:0002909)
|
Generalized aminoaciduria |
|
|
20335586
|
IBIS
|
13 / 7739
|
9
|
(HPO:0003076)
|
Glycosuria |
|
|
20335586
|
IBIS
|
32 / 7739
|
10
|
(HPO:0004322)
|
Short stature |
|
|
20335586
|
IBIS
|
1232 / 7739
|
11
|
(HPO:0010639)
|
Elevated alkaline phosphatase of bone origin |
|
|
20335586
|
IBIS
|
3 / 7739
|
12
|
(OMIM)
|
Proximal tubulopathy, generalized |
|
|
20335586
|
IBIS
|
1 / 7739
|
13
|
(OMIM)
|
Renal failure, mild to moderate |
|
|
20335586
|
IBIS
|
1 / 7739
|
14
|
(OMIM)
|
Rickets, severe |
|
|
20335586
|
IBIS
|
1 / 7739
|
15
|
(OMIM)
|
1,25-dihydroxyvitamin D was elevated in childhood but deficient in adulthood |
|
|
2842681
|
IBIS
|
1 / 7739
|
16
|
(OMIM)
|
Urinary excretion of low-molecular-weight proteins, mild |
|
|
20335586
|
IBIS
|
1 / 7739
|
17
|
(OMIM)
|
Increased fractional excretion of uric acid |
|
|
20335586
|
IBIS
|
1 / 7739
|
18
|
(HPO:0000117)
|
Renal phosphate wasting |
|
|
20335586
|
IBIS
|
14 / 7739
|
19
|
(HPO:0000124)
|
Renal tubular dysfunction |
|
|
20335586
|
IBIS
|
46 / 7739
|
20
|
(HPO:0004349)
|
Reduced bone mineral density |
|
|
20335586
|
IBIS
|
165 / 7739
|
21
|
(HPO:0012213)
|
Decreased glomerular filtration rate |
|
|
20335586
|
IBIS
|
21 / 7739
|
22
|
(HPO:0003152)
|
Increased serum 1,25-dihydroxyvitamin D3 |
|
|
20335586
|
IBIS
|
7 / 7739
|
23
|
(HPO:0002980)
|
Femoral bowing |
|
|
20335586
|
IBIS
|
36 / 7739
|
24
|
(HPO:0005574)
|
Non-acidotic proximal tubulopathy |
|
|
20335586
|
IBIS
|
2 / 7739
|
25
|
(HPO:0000093)
|
Proteinuria |
|
|
20335586
|
IBIS
|
169 / 7739
|