|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
24882706
|
IBIS
|
42 / 7739
|
|
2
|
(HPO:0000092)
|
Tubular atrophy |
|
|
24882706
|
IBIS
|
28 / 7739
|
|
3
|
(HPO:0000238)
|
Hydrocephalus |
rare [HPO:skoehler]
|
|
24882706
|
IBIS
|
278 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
24882706
|
IBIS
|
576 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
24882706
|
IBIS
|
1089 / 7739
|
|
6
|
(HPO:0001396)
|
Cholestasis |
rare [HPO:skoehler]
|
|
24882706
|
IBIS
|
136 / 7739
|
|
7
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
27625867; 19118152; 24882706
|
IBIS
|
78 / 7739
|
|
8
|
(HPO:0004722)
|
Thickening of the glomerular basement membrane |
|
|
24882706
|
IBIS
|
12 / 7739
|
|
9
|
(HPO:0006580)
|
Portal fibrosis |
rare [HPO:skoehler]
|
|
24882706
|
IBIS
|
10 / 7739
|
|
10
|
(HPO:0000108)
|
Renal corticomedullary cysts |
|
|
19118152
|
IBIS
|
21 / 7739
|
|
11
|
(HPO:0005583)
|
Tubular basement membrane disintegration |
|
|
19118152
|
IBIS
|
18 / 7739
|
|
12
|
(HPO:0001969)
|
Tubulointerstitial abnormality |
|
|
19118152; 24882706
|
IBIS
|
15 / 7739
|
|
13
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
24882706
|
IBIS
|
32 / 7739
|
|
14
|
(HPO:0000822)
|
Hypertension |
|
|
24882706
|
IBIS
|
224 / 7739
|
|
15
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
24882706
|
IBIS
|
197 / 7739
|
|
16
|
(HPO:0000546)
|
Retinal degeneration |
|
|
24882706
|
IBIS
|
61 / 7739
|
|
17
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
24882706
|
IBIS
|
169 / 7739
|