|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
22863007
|
IBIS
|
42 / 7739
|
|
2
|
(HPO:0000546)
|
Retinal degeneration |
|
|
22863007
|
IBIS
|
61 / 7739
|
|
3
|
(HPO:0000572)
|
Visual loss |
|
|
22863007
|
IBIS
|
272 / 7739
|
|
4
|
(HPO:0000618)
|
Blindness |
rare [HPO:skoehler]
|
|
22863007
|
IBIS
|
124 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
22863007
|
IBIS
|
555 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
22863007
|
IBIS
|
1245 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
22863007
|
IBIS
|
853 / 7739
|
|
8
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
rare [HPO:skoehler]
|
|
22863007
|
IBIS
|
57 / 7739
|
|
9
|
(HPO:0001513)
|
Obesity |
rare [HPO:skoehler]
|
|
22863007
|
IBIS
|
172 / 7739
|
|
10
|
(HPO:0010442)
|
Polydactyly |
rare [HPO:skoehler]
|
|
22863007
|
IBIS
|
69 / 7739
|
|
11
|
(MedDRA:10070667)
|
Leber's congenital amaurosis |
|
|
22863007
|
IBIS
|
4 / 7739
|
|
12
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
27625867; 19118152
|
IBIS
|
78 / 7739
|
|
13
|
(HPO:0000108)
|
Renal corticomedullary cysts |
|
|
19118152
|
IBIS
|
21 / 7739
|
|
14
|
(HPO:0005583)
|
Tubular basement membrane disintegration |
|
|
19118152
|
IBIS
|
18 / 7739
|
|
15
|
(HPO:0001969)
|
Tubulointerstitial abnormality |
|
|
19118152
|
IBIS
|
15 / 7739
|
|
16
|
(HPO:0000512)
|
Abnormal electroretinogram |
|
|
22863007
|
IBIS
|
61 / 7739
|
|
17
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
22863007
|
IBIS
|
36 / 7739
|
|
18
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
22863007
|
IBIS
|
141 / 7739
|
|
19
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
22863007
|
IBIS
|
169 / 7739
|
|
20
|
(HPO:0002110)
|
Bronchiectasis |
|
|
22863007
|
IBIS
|
73 / 7739
|
|
21
|
(HPO:0001410)
|
Decreased liver function |
|
|
22863007
|
IBIS
|
59 / 7739
|