|
1
|
(HPO:0003355)
|
Aminoaciduria |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
24006547
|
IBIS
|
65 / 7739
|
|
2
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
25011434
|
IBIS
|
45 / 7739
|
|
3
|
(HPO:0001410)
|
Decreased liver function |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
25135652
|
IBIS
|
59 / 7739
|
|
4
|
(HPO:0001987)
|
Hyperammonemia |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
25994866
|
IBIS
|
50 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
Very frequent [IBIS]
|
|
25011434
|
IBIS
|
1245 / 7739
|
|
6
|
(HPO:0002013)
|
Vomiting |
Very frequent [IBIS]
|
|
25011434
|
IBIS
|
191 / 7739
|
|
7
|
(HPO:0003217)
|
Hyperglutaminemia |
Very frequent [IBIS]
|
|
25011434
|
IBIS
|
9 / 7739
|
|
8
|
(HPO:0003572)
|
Low plasma citrulline |
Very frequent [IBIS]
|
|
25011434
|
IBIS
|
7 / 7739
|
|
9
|
(HPO:0003532)
|
Ornithinuria |
Very frequent [IBIS]
|
|
24006547
|
IBIS
|
5 / 7739
|
|
10
|
(MedDRA:10052450)
|
Ornithine transcarbamoylase deficiency |
Very frequent [IBIS]
|
|
12788037
|
IBIS
|
1 / 7739
|
|
11
|
(HPO:0001399)
|
Hepatic failure |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
25135652; 24006547
|
IBIS
|
80 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
Frequent [IBIS]
|
|
24006547
|
IBIS
|
1089 / 7739
|
|
13
|
(HPO:0001259)
|
Coma |
Frequent [IBIS]
|
|
25011434
|
IBIS
|
65 / 7739
|
|
14
|
(HPO:0001298)
|
Encephalopathy |
Frequent [IBIS]
|
|
25011434
|
IBIS
|
72 / 7739
|
|
15
|
(HPO:0003218)
|
Oroticaciduria |
Frequent [IBIS]
|
|
25994866
|
IBIS
|
10 / 7739
|
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
|
21989980
|
IBIS
|
990 / 7739
|
|
17
|
(HPO:0001285)
|
Spastic tetraparesis |
Frequent [IBIS]
|
|
10064660
|
IBIS
|
29 / 7739
|
|
18
|
(HPO:0002301)
|
Hemiplegia |
Occasional [IBIS]
|
|
12788037
|
IBIS
|
42 / 7739
|
|
19
|
(HPO:0001733)
|
Pancreatitis |
Occasional [IBIS]
|
|
12788037
|
IBIS
|
46 / 7739
|
|
20
|
(HPO:0002045)
|
Hypothermia |
Occasional [IBIS]
|
|
21989980
|
IBIS
|
27 / 7739
|
|
21
|
(HPO:0100704)
|
Cortical visual impairment |
Rare [IBIS]
|
|
24850570
|
IBIS
|
28 / 7739
|
|
22
|
(HPO:0000737)
|
Irritability |
|
|
10064660
|
IBIS
|
93 / 7739
|
|
23
|
(HPO:0001263)
|
Global developmental delay |
|
|
10064660
|
IBIS
|
853 / 7739
|
|
24
|
(HPO:0001270)
|
Motor delay |
|
|
24881970
|
IBIS
|
322 / 7739
|
|
25
|
(HPO:0001254)
|
Lethargy |
|
|
12788037
|
IBIS
|
104 / 7739
|
|
26
|
(HPO:0001297)
|
Stroke |
|
|
24850570
|
IBIS
|
44 / 7739
|
|
27
|
(HPO:0001508)
|
Failure to thrive |
|
|
6842197
|
IBIS
|
454 / 7739
|
|
28
|
(HPO:0001510)
|
Growth delay |
|
|
16703326
|
IBIS
|
295 / 7739
|
|
29
|
(HPO:0001950)
|
Respiratory alkalosis |
|
|
12788037
|
IBIS
|
7 / 7739
|
|
30
|
(HPO:0001951)
|
Episodic ammonia intoxication |
|
|
2035531
|
IBIS
|
4 / 7739
|
|
31
|
(HPO:0002038)
|
Protein avoidance |
|
|
12788037
|
IBIS
|
7 / 7739
|
|
32
|
(HPO:0002131)
|
Episodic ataxia |
|
|
12788037
|
IBIS
|
16 / 7739
|
|
33
|
(HPO:0002181)
|
Cerebral edema |
|
|
12788037; 24616362
|
IBIS
|
19 / 7739
|
|
34
|
(OMIM)
|
High plasma asparagine |
|
|
20142522
|
IBIS
|
1 / 7739
|
|
35
|
(OMIM)
|
High ornithine |
|
|
24006547
|
IBIS
|
1 / 7739
|
|
36
|
(OMIM)
|
Hepatic ornithine transcarbamylase deficiency |
|
|
12788037
|
IBIS
|
1 / 7739
|
|
37
|
(HPO:0100543)
|
Cognitive impairment |
|
|
25135652
|
IBIS
|
230 / 7739
|
|
38
|
(HPO:0005961)
|
Hypoargininemia |
|
|
25011434
|
IBIS
|
7 / 7739
|
|
39
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
12788037
|
IBIS
|
153 / 7739
|
|
40
|
(HPO:0002098)
|
Respiratory distress |
|
|
12788037
|
IBIS
|
75 / 7739
|
|
41
|
(HPO:0002315)
|
Headache |
|
|
12788037
|
IBIS
|
175 / 7739
|
|
42
|
(HPO:0002883)
|
Hyperventilation |
|
|
12788037
|
IBIS
|
10 / 7739
|
|
43
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
12788037
|
IBIS
|
212 / 7739
|
|
44
|
(HPO:0001289)
|
Confusion |
|
|
12788037
|
IBIS
|
36 / 7739
|
|
45
|
(HPO:0001251)
|
Ataxia |
|
|
12788037
|
IBIS
|
413 / 7739
|
|
46
|
(HPO:0003348)
|
Hyperalaninemia |
|
|
12788037
|
IBIS
|
19 / 7739
|
|
47
|
(HPO:0012127)
|
Uraciluria |
|
|
12788037
|
IBIS
|
2 / 7739
|
|
48
|
(HPO:0002353)
|
EEG abnormality |
|
|
12788037
|
IBIS
|
188 / 7739
|
|
49
|
(HPO:0100021)
|
Cerebral palsy |
|
|
10064660
|
IBIS
|
36 / 7739
|
|
50
|
(HPO:0100806)
|
Sepsis |
|
|
10064660
|
IBIS
|
48 / 7739
|
|
51
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
24616362
|
IBIS
|
47 / 7739
|
|
52
|
(HPO:0002039)
|
Anorexia |
|
|
23790482
|
IBIS
|
62 / 7739
|
|
53
|
(HPO:0002789)
|
Tachypnea |
|
|
23790482
|
IBIS
|
48 / 7739
|
|
54
|
(HPO:0012164)
|
Asterixis |
|
|
23790482
|
IBIS
|
1 / 7739
|
|
55
|
(HPO:0001288)
|
Gait disturbance |
|
|
23790482
|
IBIS
|
318 / 7739
|
|
56
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
23790482
|
IBIS
|
40 / 7739
|
|
57
|
(HPO:0001310)
|
Dysmetria |
|
|
23790482
|
IBIS
|
76 / 7739
|
|
58
|
(HPO:0001337)
|
Tremor |
|
|
23790482
|
IBIS
|
200 / 7739
|
|
59
|
(HPO:0001262)
|
Somnolence |
|
|
22727265
|
IBIS
|
20 / 7739
|
|
60
|
(HPO:0002027)
|
Abdominal pain |
|
|
21926883
|
IBIS
|
184 / 7739
|
|
61
|
(HPO:0000505)
|
Visual impairment |
|
|
3661651
|
IBIS
|
297 / 7739
|