|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
21258341; 19066617
|
IBIS
|
42 / 7739
|
|
2
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
19066617; 21258341; 27625867; 19118152
|
IBIS
|
78 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
21068128
|
IBIS
|
1089 / 7739
|
|
4
|
(HPO:0002179)
|
Opisthotonus |
|
|
21068128
|
IBIS
|
35 / 7739
|
|
5
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
21068128
|
IBIS
|
67 / 7739
|
|
6
|
(HPO:0001696)
|
Situs inversus totalis |
|
|
21068128
|
IBIS
|
44 / 7739
|
|
7
|
(HPO:0001654)
|
Abnormality of the heart valves |
|
|
21068128
|
IBIS
|
49 / 7739
|
|
8
|
(HPO:0002110)
|
Bronchiectasis |
|
|
21068128
|
IBIS
|
73 / 7739
|
|
9
|
(HPO:0030151)
|
Cholangitis |
|
|
21068128
|
IBIS
|
10 / 7739
|
|
10
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
21068128
|
IBIS
|
94 / 7739
|
|
11
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
21068128
|
IBIS
|
65 / 7739
|
|
12
|
(HPO:0000108)
|
Renal corticomedullary cysts |
|
|
19118152
|
IBIS
|
21 / 7739
|
|
13
|
(HPO:0001969)
|
Tubulointerstitial abnormality |
|
|
19118152
|
IBIS
|
15 / 7739
|
|
14
|
(HPO:0005583)
|
Tubular basement membrane disintegration |
|
|
19118152
|
IBIS
|
18 / 7739
|
|
15
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
19066617
|
IBIS
|
32 / 7739
|
|
16
|
(HPO:0000092)
|
Tubular atrophy |
|
|
19066617
|
IBIS
|
28 / 7739
|