|
1
|
(HPO:0000092)
|
Tubular atrophy |
|
|
19066617
|
IBIS
|
28 / 7739
|
|
2
|
(HPO:0000103)
|
Polyuria |
|
|
19177160
|
IBIS
|
60 / 7739
|
|
3
|
(HPO:0000108)
|
Renal corticomedullary cysts |
|
|
19118152; 19066617
|
IBIS
|
21 / 7739
|
|
4
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
19066617; 19177160
|
IBIS
|
67 / 7739
|
|
5
|
(HPO:0001959)
|
Polydipsia |
|
|
19177160
|
IBIS
|
43 / 7739
|
|
6
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
19066617
|
IBIS
|
32 / 7739
|
|
7
|
(HPO:0000090)
|
Nephronophthisis |
|
|
19066617; 19303681
|
IBIS
|
42 / 7739
|
|
8
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
27625867; 19118152; 19066617; 19177160
|
IBIS
|
78 / 7739
|
|
9
|
(HPO:0005583)
|
Tubular basement membrane disintegration |
|
|
19118152
|
IBIS
|
18 / 7739
|
|
10
|
(HPO:0001969)
|
Tubulointerstitial abnormality |
|
|
19118152; 19177160
|
IBIS
|
15 / 7739
|
|
11
|
(HPO:0000546)
|
Retinal degeneration |
|
|
19066617
|
IBIS
|
61 / 7739
|
|
12
|
(HPO:0000822)
|
Hypertension |
|
|
19177160; 19303681
|
IBIS
|
224 / 7739
|
|
13
|
(HPO:0004719)
|
Hyperechogenic kidneys |
|
|
19177160
|
IBIS
|
10 / 7739
|
|
14
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
19177160; 19303681
|
IBIS
|
30 / 7739
|
|
15
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
19177160; 19303681
|
IBIS
|
78 / 7739
|
|
16
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
19177160; 19303681
|
IBIS
|
16 / 7739
|
|
17
|
(HPO:0004722)
|
Thickening of the glomerular basement membrane |
|
|
19177160
|
IBIS
|
12 / 7739
|
|
18
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
19177160
|
IBIS
|
28 / 7739
|
|
19
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
19177160
|
IBIS
|
54 / 7739
|
|
20
|
(HPO:0001654)
|
Abnormality of the heart valves |
|
|
19177160
|
IBIS
|
49 / 7739
|
|
21
|
(HPO:0004760)
|
Congenital septal defect |
|
|
19177160
|
IBIS
|
69 / 7739
|
|
22
|
(HPO:0002837)
|
Recurrent bronchitis |
|
|
19177160
|
IBIS
|
21 / 7739
|
|
23
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
19177160
|
IBIS
|
266 / 7739
|
|
24
|
(HPO:0001903)
|
Anemia |
|
|
19177160
|
IBIS
|
289 / 7739
|
|
25
|
(HPO:0001508)
|
Failure to thrive |
|
|
19177160
|
IBIS
|
454 / 7739
|
|
26
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
19177160
|
IBIS
|
158 / 7739
|
|
27
|
(HPO:0001562)
|
Oligohydramnios |
|
|
19303681
|
IBIS
|
75 / 7739
|
|
28
|
(HPO:0006549)
|
Unilateral primary pulmonary dysgenesis |
|
|
19303681
|
IBIS
|
2 / 7739
|
|
29
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
19303681
|
IBIS
|
80 / 7739
|
|
30
|
(HPO:0002098)
|
Respiratory distress |
|
|
19303681
|
IBIS
|
75 / 7739
|
|
31
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
19303681
|
IBIS
|
76 / 7739
|
|
32
|
(HPO:0001696)
|
Situs inversus totalis |
|
|
19303681
|
IBIS
|
44 / 7739
|
|
33
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
19303681
|
IBIS
|
55 / 7739
|
|
34
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
19303681
|
IBIS
|
228 / 7739
|
|
35
|
(HPO:0002414)
|
Spina bifida |
|
|
19303681
|
IBIS
|
47 / 7739
|
|
36
|
(HPO:0000014)
|
Abnormality of the bladder |
|
|
19303681
|
IBIS
|
3 / 7739
|
|
37
|
(HPO:0000369)
|
Low-set ears |
|
|
19303681
|
IBIS
|
372 / 7739
|