|
1
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
Very frequent [IBIS]
|
|
27625867; 19118152; 19066617; 16522655; 9792867; 19177160; 12872123; 2884728
|
IBIS
|
78 / 7739
|
|
2
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
16522655; 19177160
|
IBIS
|
30 / 7739
|
|
3
|
(HPO:0000822)
|
Hypertension |
|
|
19177160; 9792867; 12872123
|
IBIS
|
224 / 7739
|
|
4
|
(HPO:0001562)
|
Oligohydramnios |
|
|
9792867
|
IBIS
|
75 / 7739
|
|
5
|
(HPO:0001696)
|
Situs inversus totalis |
rare [HPO:skoehler]
|
|
19177160; 12872123; 18218308; 2884728
|
IBIS
|
44 / 7739
|
|
6
|
(HPO:0003259)
|
Elevated serum creatinine |
|
|
9792867
|
IBIS
|
31 / 7739
|
|
7
|
(HPO:0004719)
|
Hyperechogenic kidneys |
|
|
9792867; 19177160
|
IBIS
|
10 / 7739
|
|
8
|
(HPO:0004734)
|
Renal cortical microcysts |
|
|
19177160
|
IBIS
|
10 / 7739
|
|
9
|
(HPO:0004743)
|
Chronic tubulointerstitial nephritis |
|
|
9792867
|
IBIS
|
2 / 7739
|
|
10
|
(HPO:0005564)
|
Absence of renal corticomedullary differentiation |
|
|
9792867
|
IBIS
|
2 / 7739
|
|
11
|
(HPO:0005976)
|
Hyperkalemic metabolic acidosis |
|
|
9792867
|
IBIS
|
1 / 7739
|
|
12
|
(HPO:0000090)
|
Nephronophthisis |
|
|
19066617; 16522655; 18218308
|
IBIS
|
42 / 7739
|
|
13
|
(HPO:0002878)
|
Respiratory failure |
|
|
9792867
|
IBIS
|
57 / 7739
|
|
14
|
(HPO:0000108)
|
Renal corticomedullary cysts |
|
|
19118152; 19066617
|
IBIS
|
21 / 7739
|
|
15
|
(HPO:0001969)
|
Tubulointerstitial abnormality |
|
|
19118152; 19177160
|
IBIS
|
15 / 7739
|
|
16
|
(HPO:0005583)
|
Tubular basement membrane disintegration |
|
|
19118152
|
IBIS
|
18 / 7739
|
|
17
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
19066617; 19177160
|
IBIS
|
32 / 7739
|
|
18
|
(HPO:0000092)
|
Tubular atrophy |
|
|
19066617
|
IBIS
|
28 / 7739
|
|
19
|
(HPO:0001903)
|
Anemia |
|
|
16522655; 9792867; 19177160
|
IBIS
|
289 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
|
|
16522655
|
IBIS
|
1232 / 7739
|
|
21
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
16522655
|
IBIS
|
266 / 7739
|
|
22
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
9792867; 19177160; 12872123; 2884728
|
IBIS
|
16 / 7739
|
|
23
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
19177160; 2884728
|
IBIS
|
78 / 7739
|
|
24
|
(HPO:0001654)
|
Abnormality of the heart valves |
|
|
19177160
|
IBIS
|
49 / 7739
|
|
25
|
(HPO:0004760)
|
Congenital septal defect |
|
|
19177160
|
IBIS
|
69 / 7739
|
|
26
|
(HPO:0002837)
|
Recurrent bronchitis |
|
|
19177160
|
IBIS
|
21 / 7739
|
|
27
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
19177160
|
IBIS
|
28 / 7739
|
|
28
|
(HPO:0001263)
|
Global developmental delay |
|
|
19177160
|
IBIS
|
853 / 7739
|
|
29
|
(HPO:0000103)
|
Polyuria |
|
|
19177160
|
IBIS
|
60 / 7739
|
|
30
|
(HPO:0001959)
|
Polydipsia |
|
|
19177160
|
IBIS
|
43 / 7739
|
|
31
|
(HPO:0001508)
|
Failure to thrive |
|
|
19177160
|
IBIS
|
454 / 7739
|
|
32
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
19177160
|
IBIS
|
197 / 7739
|
|
33
|
(HPO:0001806)
|
Onycholysis |
|
|
19177160
|
IBIS
|
20 / 7739
|
|
34
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
19177160
|
IBIS
|
64 / 7739
|
|
35
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
12872123
|
IBIS
|
316 / 7739
|
|
36
|
(HPO:0002315)
|
Headache |
|
|
2884728
|
IBIS
|
175 / 7739
|
|
37
|
(HPO:0002018)
|
Nausea |
|
|
2884728
|
IBIS
|
44 / 7739
|
|
38
|
(HPO:0001970)
|
Tubulointerstitial nephritis |
|
|
2884728
|
IBIS
|
27 / 7739
|