1
|
(HPO:0000083)
|
Renal insufficiency |
Very frequent [IBIS]
|
|
25949937
|
IBIS
|
232 / 7739
|
2
|
(HPO:0000121)
|
Nephrocalcinosis |
Very frequent [IBIS]
|
|
25949937
|
IBIS
|
57 / 7739
|
3
|
(HPO:0003159)
|
Hyperoxaluria |
Very frequent [IBIS]
|
|
25949937
|
IBIS
|
6 / 7739
|
4
|
(HPO:0008672)
|
Calcium oxalate nephrolithiasis |
Very frequent [IBIS]
|
|
18155525
|
IBIS
|
10 / 7739
|
5
|
(HPO:0000488)
|
Retinopathy |
|
|
21596303
|
IBIS
|
75 / 7739
|
6
|
(HPO:0000648)
|
Optic atrophy |
|
|
21596303
|
IBIS
|
238 / 7739
|
7
|
(HPO:0000790)
|
Hematuria |
|
|
18155525
|
IBIS
|
106 / 7739
|
8
|
(HPO:0001063)
|
Acrocyanosis |
|
|
6770732
|
IBIS
|
56 / 7739
|
9
|
(HPO:0001138)
|
Optic neuropathy |
|
|
21596303
|
IBIS
|
12 / 7739
|
10
|
(HPO:0001678)
|
Atrioventricular block |
|
|
20921818
|
IBIS
|
59 / 7739
|
11
|
(HPO:0011675)
|
Arrhythmia |
|
|
20921818
|
IBIS
|
226 / 7739
|
12
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
20301460
|
IBIS
|
81 / 7739
|
13
|
(HPO:0002653)
|
Bone pain |
|
|
19308578
|
IBIS
|
75 / 7739
|
14
|
(HPO:0002756)
|
Pathologic fracture |
|
|
19308578
|
IBIS
|
30 / 7739
|
15
|
(HPO:0004417)
|
Intermittent claudication |
|
|
3063419
|
IBIS
|
10 / 7739
|
16
|
(HPO:0005315)
|
Peripheral artery occlusive disease |
|
|
6770732
|
IBIS
|
7 / 7739
|
17
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
25363903
|
IBIS
|
62 / 7739
|
18
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
25363903
|
IBIS
|
31 / 7739
|
19
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
25363903
|
IBIS
|
206 / 7739
|
20
|
(HPO:0011001)
|
Increased bone mineral density |
|
|
25631241
|
IBIS
|
78 / 7739
|
21
|
(HPO:0011002)
|
Osteopetrosis |
|
|
25631241
|
IBIS
|
19 / 7739
|
22
|
(HPO:0100758)
|
Gangrene |
|
|
25949937
|
IBIS
|
25 / 7739
|
23
|
(OMIM)
|
Choroidal neovascularization |
|
|
12095827
|
IBIS
|
2 / 7739
|
24
|
(OMIM)
|
Mild vision impairment |
|
|
21596303
|
IBIS
|
1 / 7739
|
25
|
(OMIM)
|
Root resorption |
|
|
22417769
|
IBIS
|
1 / 7739
|
26
|
(OMIM)
|
Pulp exposure |
|
|
22417769
|
IBIS
|
2 / 7739
|
27
|
(OMIM)
|
Tooth mobility |
|
|
22417769
|
IBIS
|
1 / 7739
|
28
|
(MedDRA:10003175)
|
Arterial spasm |
|
|
6770732
|
IBIS
|
1 / 7739
|
29
|
(OMIM)
|
Arterial occlusion |
|
|
6770732
|
IBIS
|
1 / 7739
|
30
|
(OMIM)
|
Calcinosis cutis metastatica |
|
|
6048408
|
IBIS
|
1 / 7739
|
31
|
(OMIM)
|
Hyperoxalemia |
|
|
18155525
|
IBIS
|
1 / 7739
|
32
|
(OMIM)
|
Hyperglycolic aciduria |
|
|
25949937
|
IBIS
|
1 / 7739
|
33
|
(OMIM)
|
Diffuse deposition of calcium oxalate in various tissues |
|
|
25949937
|
IBIS
|
1 / 7739
|
34
|
(OMIM)
|
Decreased AGT activity |
|
|
25949937
|
IBIS
|
1 / 7739
|
35
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
18155525
|
IBIS
|
78 / 7739
|
36
|
(HPO:0002829)
|
Arthralgia |
|
|
18155525
|
IBIS
|
79 / 7739
|
37
|
(HPO:0003326)
|
Myalgia |
|
|
18155525
|
IBIS
|
143 / 7739
|
38
|
(HPO:0000988)
|
Skin rash |
|
|
18155525
|
IBIS
|
98 / 7739
|
39
|
(HPO:0003259)
|
Elevated serum creatinine |
|
|
18155525
|
IBIS
|
31 / 7739
|
40
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
24140676
|
IBIS
|
141 / 7739
|
41
|
(HPO:0001723)
|
Restrictive cardiomyopathy |
|
|
24140676
|
IBIS
|
22 / 7739
|
42
|
(HPO:0001640)
|
Cardiomegaly |
|
|
24140676
|
IBIS
|
81 / 7739
|
43
|
(HPO:0005162)
|
Left ventricular failure |
|
|
20921818
|
IBIS
|
18 / 7739
|
44
|
(HPO:0001708)
|
Right ventricular failure |
|
|
20921818
|
IBIS
|
11 / 7739
|
45
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
20921818
|
IBIS
|
109 / 7739
|
46
|
(MedDRA:10052337)
|
Diastolic dysfunction |
|
|
20921818
|
IBIS
|
14 / 7739
|
47
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
20921818
|
IBIS
|
76 / 7739
|
48
|
(HPO:0001508)
|
Failure to thrive |
|
|
20301460
|
IBIS
|
454 / 7739
|
49
|
(HPO:0007703)
|
Abnormality of retinal pigmentation |
|
|
21596303
|
IBIS
|
21 / 7739
|
50
|
(HPO:0000505)
|
Visual impairment |
|
|
21596303
|
IBIS
|
297 / 7739
|
51
|
(HPO:0003484)
|
Upper limb muscle weakness |
|
|
25363903
|
IBIS
|
19 / 7739
|
52
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
25363903
|
IBIS
|
61 / 7739
|
53
|
(HPO:0006479)
|
Abnormality of the dental pulp |
|
|
22417769
|
IBIS
|
1 / 7739
|
54
|
(HPO:0003304)
|
Spondylolysis |
|
|
19308578
|
IBIS
|
11 / 7739
|