|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
20179356
|
IBIS
|
42 / 7739
|
|
2
|
(HPO:0000092)
|
Tubular atrophy |
|
|
20179356
|
IBIS
|
28 / 7739
|
|
3
|
(HPO:0000822)
|
Hypertension |
rare [HPO:skoehler]
|
|
20179356
|
IBIS
|
224 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
20179356
|
IBIS
|
1245 / 7739
|
|
5
|
(HPO:0001737)
|
Pancreatic cysts |
rare [HPO:skoehler]
|
|
20179356
|
IBIS
|
15 / 7739
|
|
6
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
20179356
|
IBIS
|
78 / 7739
|
|
7
|
(HPO:0005583)
|
Tubular basement membrane disintegration |
|
|
20179356
|
IBIS
|
18 / 7739
|
|
8
|
(HPO:0006280)
|
Chronic pancreatitis |
rare [HPO:skoehler]
|
|
20179356
|
IBIS
|
3 / 7739
|
|
9
|
(HPO:0100702)
|
Arachnoid cyst |
rare [HPO:skoehler]
|
|
20179356
|
IBIS
|
15 / 7739
|
|
10
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
20179356
|
IBIS
|
524 / 7739
|
|
11
|
(MedDRA:10015496)
|
Essential tremor |
|
|
20179356
|
IBIS
|
4 / 7739
|
|
12
|
(HPO:0003750)
|
Increased muscle fatiguability |
|
|
20179356
|
IBIS
|
8 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
20179356
|
IBIS
|
853 / 7739
|
|
14
|
(HPO:0001997)
|
Gout |
|
|
20179356
|
IBIS
|
18 / 7739
|
|
15
|
(HPO:0012103)
|
Abnormality of the mitochondrion |
|
|
20179356
|
IBIS
|
7 / 7739
|
|
16
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
20179356
|
IBIS
|
35 / 7739
|
|
17
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
20179356
|
IBIS
|
137 / 7739
|
|
18
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
20179356
|
IBIS
|
141 / 7739
|
|
19
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
20179356
|
IBIS
|
28 / 7739
|
|
20
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
20179356
|
IBIS
|
32 / 7739
|