|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
24674142; 25984213; 15723066; 21068128
|
IBIS
|
42 / 7739
|
|
2
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
25984213; 15723066; 21068128
|
IBIS
|
266 / 7739
|
|
3
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
24674142; 25984213
|
IBIS
|
78 / 7739
|
|
4
|
(MedDRA:10070667)
|
Leber's congenital amaurosis |
|
|
24674142; 21068128
|
IBIS
|
4 / 7739
|
|
5
|
(HPO:0007875)
|
Congenital blindness |
|
|
24674142
|
IBIS
|
9 / 7739
|
|
6
|
(HPO:0000103)
|
Polyuria |
|
|
24674142; 25984213
|
IBIS
|
60 / 7739
|
|
7
|
(HPO:0000017)
|
Nocturia |
|
|
24674142
|
IBIS
|
5 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
|
|
24674142
|
IBIS
|
1232 / 7739
|
|
9
|
(HPO:0001903)
|
Anemia |
|
|
24674142
|
IBIS
|
289 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
|
|
24674142; 21068128
|
IBIS
|
555 / 7739
|
|
11
|
(HPO:0000618)
|
Blindness |
|
|
25984213
|
IBIS
|
124 / 7739
|
|
12
|
(HPO:0000518)
|
Cataract |
|
|
25984213
|
IBIS
|
454 / 7739
|
|
13
|
(HPO:0001959)
|
Polydipsia |
|
|
25984213
|
IBIS
|
43 / 7739
|
|
14
|
(HPO:0010741)
|
Edema of the lower limbs |
|
|
25984213
|
IBIS
|
34 / 7739
|
|
15
|
(HPO:0000107)
|
Renal cyst |
|
|
24674142; 25984213
|
IBIS
|
126 / 7739
|