1
|
(HPO:0000112)
|
Nephropathy |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
20378641
|
IBIS
|
92 / 7739
|
2
|
(HPO:0000003)
|
Multicystic kidney dysplasia |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
23878349; 23869298
|
IBIS
|
17 / 7739
|
3
|
(HPO:0000800)
|
Cystic renal dysplasia |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
23878349
|
IBIS
|
31 / 7739
|
4
|
(HPO:0000107)
|
Renal cyst |
Very frequent [IBIS]
19/23 [HPO]
|
|
23878349; 25441779; 20378641; 15930087; 11562418; 9703339; 12161522
|
IBIS
|
126 / 7739
|
5
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
23878349; 23869298; 20378641
|
IBIS
|
86 / 7739
|
6
|
(HPO:0002149)
|
Hyperuricemia |
Occasional [Orphanet]
|
|
23878349; 20378641; 12675839
|
IBIS
|
37 / 7739
|
7
|
(HPO:0000022)
|
Abnormality of male internal genitalia |
Occasional [Orphanet]
|
|
15068978
|
IBIS
|
5 / 7739
|
8
|
(HPO:0001397)
|
Hepatic steatosis |
Occasional [Orphanet]
|
|
21767339
|
IBIS
|
75 / 7739
|
9
|
(HPO:0001738)
|
Exocrine pancreatic insufficiency |
Occasional [Orphanet]
|
|
23869298; 25360493
|
IBIS
|
23 / 7739
|
10
|
(HPO:0012092)
|
Abnormality of exocrine pancreas physiology |
Occasional [Orphanet]
|
|
25360493; 15068978
|
IBIS
|
9 / 7739
|
11
|
(HPO:0000089)
|
Renal hypoplasia |
Occasional [Orphanet]
1/23 [HPO]
|
|
21767339; 25441779; 20378641
|
IBIS
|
78 / 7739
|
12
|
(HPO:0002594)
|
Pancreatic hypoplasia |
Occasional [Orphanet]
5/6 [HPO]
|
|
25360493; 21767339; 20378641
|
IBIS
|
5 / 7739
|
13
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
15068978; 15001636
|
IBIS
|
136 / 7739
|
14
|
(HPO:0000103)
|
Polyuria |
Occasional [Orphanet]
|
|
15068978; 11317673
|
IBIS
|
60 / 7739
|
15
|
(HPO:0000085)
|
Horseshoe kidney |
Occasional [Orphanet]
|
|
23878349; 25441779; 11845237
|
IBIS
|
39 / 7739
|
16
|
(HPO:0000110)
|
Renal dysplasia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
23878349; 25360493
|
IBIS
|
44 / 7739
|
17
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
23878349; 23869298; 25360493
|
IBIS
|
75 / 7739
|
18
|
(HPO:0001249)
|
Intellectual disability |
Occasional [Orphanet]
|
|
20378641
|
IBIS
|
1089 / 7739
|
19
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
11918730
|
IBIS
|
250 / 7739
|
20
|
(HPO:0000008)
|
Abnormality of female internal genitalia |
Occasional [Orphanet]
|
|
23878349
|
IBIS
|
3 / 7739
|
21
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
23878349; 23869298
|
IBIS
|
21 / 7739
|
22
|
(HPO:0000074)
|
Ureteropelvic junction obstruction |
|
|
20378641; 12675839
|
IBIS
|
15 / 7739
|
23
|
(HPO:0000093)
|
Proteinuria |
|
|
25441779; 9703339
|
IBIS
|
169 / 7739
|
24
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
20378641; 11918730
|
IBIS
|
24 / 7739
|
25
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
25441779; 12675839
|
IBIS
|
78 / 7739
|
26
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
23878349; 23869298; 20378641; 15068978; 11918730; 11317673
|
IBIS
|
22 / 7739
|
27
|
(HPO:0001997)
|
Gout |
|
|
23878349; 12675839
|
IBIS
|
18 / 7739
|
28
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Occasional [Orphanet]
|
|
21767339; 20378641
|
IBIS
|
158 / 7739
|
29
|
(HPO:0003076)
|
Glycosuria |
|
|
21767339
|
IBIS
|
32 / 7739
|
30
|
(HPO:0003259)
|
Elevated serum creatinine |
|
|
23878349
|
IBIS
|
31 / 7739
|
31
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
20378641; 9703339; 12675839
|
IBIS
|
78 / 7739
|
32
|
(HPO:0004904)
|
Maturity-onset diabetes of the young |
|
|
23878349; 21767339; 20378641; 15930087; 9703339; 12161522; 12148114; 11845237; 11317673; 15001636
|
IBIS
|
17 / 7739
|
33
|
(HPO:0100611)
|
Multiple glomerular cysts |
|
|
23878349; 25360493
|
IBIS
|
2 / 7739
|
34
|
(HPO:0000027)
|
Azoospermia |
|
|
15068978
|
IBIS
|
28 / 7739
|
35
|
(HPO:0000798)
|
Oligospermia |
|
|
15068978
|
IBIS
|
13 / 7739
|
36
|
(OMIM)
|
Atresia of the vas deferens |
|
|
15068978
|
IBIS
|
1 / 7739
|
37
|
(HPO:0012210)
|
Abnormal renal morphology |
|
|
23878349; 25441779
|
IBIS
|
18 / 7739
|
38
|
(OMIM)
|
Enlarged glomeruli |
|
|
15068978
|
IBIS
|
3 / 7739
|
39
|
(OMIM)
|
Oligomeganephronia |
|
|
15068978
|
IBIS
|
1 / 7739
|
40
|
(HPO:0002917)
|
Hypomagnesemia |
|
|
23878349; 19389850
|
IBIS
|
19 / 7739
|
41
|
(HPO:0012093)
|
Abnormality of endocrine pancreas physiology |
|
|
23869298
|
IBIS
|
4 / 7739
|
42
|
(HPO:0000078)
|
Abnormality of the genital system |
|
|
25360493; 15068978
|
IBIS
|
33 / 7739
|
43
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
25360493; 21767339
|
IBIS
|
358 / 7739
|
44
|
(HPO:0001410)
|
Decreased liver function |
|
|
25360493; 12148114
|
IBIS
|
59 / 7739
|
45
|
(HPO:0004719)
|
Hyperechogenic kidneys |
|
|
25360493; 20378641; 12148114
|
IBIS
|
10 / 7739
|
46
|
(HPO:0012465)
|
Elevated hepatic iron concentration |
|
|
21767339
|
IBIS
|
8 / 7739
|
47
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
21767339
|
IBIS
|
113 / 7739
|
48
|
(HPO:0005978)
|
Type II diabetes mellitus |
|
|
21767339; 20378641; 15068978; 15930087
|
IBIS
|
68 / 7739
|
49
|
(HPO:0000097)
|
Focal segmental glomerulosclerosis |
|
|
25441779
|
IBIS
|
37 / 7739
|
50
|
(MedDRA:10062190)
|
Metabolic encephalopathy |
|
|
25441779
|
IBIS
|
1 / 7739
|
51
|
(HPO:0001953)
|
Diabetic ketoacidosis |
|
|
25441779; 15068978
|
IBIS
|
6 / 7739
|
52
|
(HPO:0002902)
|
Hyponatremia |
|
|
25441779
|
IBIS
|
37 / 7739
|
53
|
(HPO:0001919)
|
Acute kidney injury |
|
|
25441779; 20378641
|
IBIS
|
21 / 7739
|
54
|
(HPO:0000081)
|
Duplicated collecting system |
|
|
25441779
|
IBIS
|
16 / 7739
|
55
|
(HPO:0011130)
|
Abnormality of renal calyx morphology |
|
|
25441779
|
IBIS
|
2 / 7739
|
56
|
(HPO:0010946)
|
Dilatation of the renal pelvis |
|
|
25441779; 20378641
|
IBIS
|
2 / 7739
|
57
|
(HPO:0012094)
|
Abnormal pancreas size |
|
|
25441779
|
IBIS
|
5 / 7739
|
58
|
(HPO:0005236)
|
Chronic calcifying pancreatitis |
|
|
25441779
|
IBIS
|
2 / 7739
|
59
|
(HPO:0012583)
|
Unilateral renal hypoplasia |
|
|
20378641; 12148114
|
IBIS
|
1 / 7739
|
60
|
(HPO:0000151)
|
Aplasia of the uterus |
|
|
20378641
|
IBIS
|
12 / 7739
|
61
|
(HPO:0000148)
|
Vaginal atresia |
|
|
20378641
|
IBIS
|
16 / 7739
|
62
|
(HPO:0000083)
|
Renal insufficiency |
|
|
20378641; 9703339
|
IBIS
|
232 / 7739
|
63
|
(HPO:0004734)
|
Renal cortical microcysts |
|
|
20378641
|
IBIS
|
10 / 7739
|
64
|
(HPO:0012213)
|
Decreased glomerular filtration rate |
|
|
20378641
|
IBIS
|
21 / 7739
|
65
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
20378641
|
IBIS
|
32 / 7739
|
66
|
(HPO:0003762)
|
Uterus didelphys |
|
|
20378641; 15930087; 11918730
|
IBIS
|
8 / 7739
|
67
|
(HPO:0012608)
|
Hypermagnesiuria |
|
|
19389850
|
IBIS
|
3 / 7739
|
68
|
(HPO:0001946)
|
Ketosis |
|
|
15068978
|
IBIS
|
17 / 7739
|
69
|
(HPO:0002048)
|
Renal cortical atrophy |
|
|
15068978
|
IBIS
|
3 / 7739
|
70
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
15068978
|
IBIS
|
32 / 7739
|
71
|
(HPO:0009715)
|
Papillary cystadenoma of the epididymis |
|
|
15068978
|
IBIS
|
3 / 7739
|
72
|
(HPO:0012243)
|
Abnormal genital system morphology |
|
|
15930087
|
IBIS
|
1 / 7739
|
73
|
(HPO:0000137)
|
Abnormality of the ovary |
|
|
15930087
|
IBIS
|
41 / 7739
|
74
|
(OMIM)
|
Unicornuate uterus |
|
|
15930087
|
IBIS
|
3 / 7739
|
75
|
(HPO:0009800)
|
Maternal diabetes |
|
|
11562418
|
IBIS
|
14 / 7739
|
76
|
(HPO:0004727)
|
Impaired renal concentrating ability |
|
|
12161522
|
IBIS
|
6 / 7739
|
77
|
(HPO:0012584)
|
Bilateral renal hypoplasia |
|
|
12161522
|
IBIS
|
2 / 7739
|
78
|
(HPO:0001959)
|
Polydipsia |
|
|
11317673
|
IBIS
|
43 / 7739
|
79
|
(HPO:0000095)
|
Abnormality of the glomerulus |
|
|
15068978
|
IBIS
|
1 / 7739
|
80
|
(HPO:0003250)
|
Aplasia of the vagina |
|
|
23878349
|
IBIS
|
6 / 7739
|
81
|
(HPO:0001518)
|
Small for gestational age |
|
|
23878349
|
IBIS
|
107 / 7739
|