|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
18199800
|
IBIS
|
42 / 7739
|
|
2
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
27625867; 19118152; 18199800
|
IBIS
|
78 / 7739
|
|
3
|
(HPO:0000108)
|
Renal corticomedullary cysts |
|
|
19118152
|
IBIS
|
21 / 7739
|
|
4
|
(HPO:0005583)
|
Tubular basement membrane disintegration |
|
|
19118152
|
IBIS
|
18 / 7739
|
|
5
|
(HPO:0001969)
|
Tubulointerstitial abnormality |
|
|
19118152
|
IBIS
|
15 / 7739
|
|
6
|
(HPO:0000107)
|
Renal cyst |
|
|
26967905
|
IBIS
|
126 / 7739
|
|
7
|
(HPO:0001696)
|
Situs inversus totalis |
|
|
26967905
|
IBIS
|
44 / 7739
|
|
8
|
(HPO:0001640)
|
Cardiomegaly |
|
|
26967905
|
IBIS
|
81 / 7739
|
|
9
|
(HPO:0001080)
|
Biliary tract abnormality |
|
|
26967905
|
IBIS
|
26 / 7739
|
|
10
|
(HPO:0001732)
|
Abnormality of the pancreas |
|
|
26967905; 23418306
|
IBIS
|
5 / 7739
|
|
11
|
(HPO:0000774)
|
Narrow chest |
|
|
26967905
|
IBIS
|
167 / 7739
|
|
12
|
(HPO:0002823)
|
Abnormality of the femur |
|
|
26967905
|
IBIS
|
61 / 7739
|
|
13
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
26967905
|
IBIS
|
142 / 7739
|
|
14
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
26967905
|
IBIS
|
25 / 7739
|
|
15
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
26697755
|
IBIS
|
73 / 7739
|
|
16
|
(HPO:0000103)
|
Polyuria |
|
|
18199800
|
IBIS
|
60 / 7739
|
|
17
|
(HPO:0001959)
|
Polydipsia |
|
|
18199800
|
IBIS
|
43 / 7739
|
|
18
|
(HPO:0001903)
|
Anemia |
|
|
18199800
|
IBIS
|
289 / 7739
|
|
19
|
(HPO:0001510)
|
Growth delay |
|
|
18199800
|
IBIS
|
295 / 7739
|
|
20
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
26697755
|
IBIS
|
49 / 7739
|
|
21
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
26697755
|
IBIS
|
89 / 7739
|
|
22
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
26697755
|
IBIS
|
32 / 7739
|
|
23
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
26697755; 23418306
|
IBIS
|
30 / 7739
|
|
24
|
(HPO:0002240)
|
Hepatomegaly |
|
|
26697755
|
IBIS
|
467 / 7739
|
|
25
|
(HPO:0001396)
|
Cholestasis |
|
|
26697755
|
IBIS
|
136 / 7739
|
|
26
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
26697755; 23418306
|
IBIS
|
16 / 7739
|
|
27
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
26697755
|
IBIS
|
32 / 7739
|
|
28
|
(HPO:0002098)
|
Respiratory distress |
|
|
26697755
|
IBIS
|
75 / 7739
|
|
29
|
(HPO:0200128)
|
Biventricular hypertrophy |
|
|
26697755
|
IBIS
|
11 / 7739
|
|
30
|
(HPO:0002244)
|
Abnormality of the small intestine |
|
|
26697755
|
IBIS
|
12 / 7739
|
|
31
|
(HPO:0001669)
|
Transposition of the great arteries |
|
|
26697755
|
IBIS
|
36 / 7739
|
|
32
|
(HPO:0004935)
|
Pulmonary artery atresia |
|
|
26697755
|
IBIS
|
12 / 7739
|
|
33
|
(HPO:0011662)
|
Tricuspid atresia |
|
|
26697755
|
IBIS
|
4 / 7739
|
|
34
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
26697755
|
IBIS
|
228 / 7739
|
|
35
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
26697755
|
IBIS
|
31 / 7739
|
|
36
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
23418306
|
IBIS
|
28 / 7739
|
|
37
|
(HPO:0001627)
|
Abnormal heart morphology |
|
|
23418306
|
IBIS
|
19 / 7739
|