|
1
|
(HPO:0100950)
|
Long chain 3 hydroxyacyl coA dehydrogenase deficiency |
Very frequent [IBIS]
|
|
24997711
|
IBIS
|
1 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
|
23430524
|
IBIS
|
990 / 7739
|
|
3
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [IBIS]
|
|
27078015
|
IBIS
|
192 / 7739
|
|
4
|
(HPO:0001943)
|
Hypoglycemia |
Frequent [IBIS]
|
|
27078015
|
IBIS
|
131 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [IBIS]
|
|
23430524
|
IBIS
|
467 / 7739
|
|
6
|
(HPO:0000580)
|
Pigmentary retinopathy |
Frequent [IBIS]
|
|
27078015
|
IBIS
|
49 / 7739
|
|
7
|
(HPO:0003201)
|
Rhabdomyolysis |
Frequent [IBIS]
|
|
27078015
|
IBIS
|
27 / 7739
|
|
8
|
(HPO:0001985)
|
Hypoketotic hypoglycemia |
Frequent [IBIS]
|
|
25141826
|
IBIS
|
11 / 7739
|
|
9
|
(HPO:0000533)
|
Chorioretinal atrophy |
Frequent [IBIS]
|
|
27078015
|
IBIS
|
24 / 7739
|
|
10
|
(HPO:0001397)
|
Hepatic steatosis |
Frequent [IBIS]
|
|
27078015
|
IBIS
|
75 / 7739
|
|
11
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Frequent [IBIS]
|
|
26676313
|
IBIS
|
137 / 7739
|
|
12
|
(HPO:0100602)
|
Preeclampsia |
Frequent [IBIS]
|
|
23430524
|
IBIS
|
9 / 7739
|
|
13
|
(MedDRA:10049058)
|
HELLP syndrome |
Frequent [IBIS]
|
|
23430524
|
IBIS
|
2 / 7739
|
|
14
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [IBIS]
|
|
23430524
|
IBIS
|
358 / 7739
|
|
15
|
(MedDRA:10000746)
|
Acute fatty liver of pregnancy |
Frequent [IBIS]
|
|
23430524
|
IBIS
|
1 / 7739
|
|
16
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Occasional [IBIS]
|
|
26676313
|
IBIS
|
141 / 7739
|
|
17
|
(HPO:0001394)
|
Cirrhosis |
Occasional [IBIS]
|
|
22459206
|
IBIS
|
102 / 7739
|
|
18
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
27117294
|
IBIS
|
214 / 7739
|
|
19
|
(HPO:0007185)
|
Loss of consciousness |
|
|
24997711
|
IBIS
|
9 / 7739
|
|
20
|
(HPO:0001259)
|
Coma |
|
|
24997711
|
IBIS
|
65 / 7739
|
|
21
|
(HPO:0001271)
|
Polyneuropathy |
|
|
24997711
|
IBIS
|
56 / 7739
|
|
22
|
(HPO:0000488)
|
Retinopathy |
|
|
24997711
|
IBIS
|
75 / 7739
|
|
23
|
(HPO:0002480)
|
Hepatic encephalopathy |
|
|
1537353
|
IBIS
|
6 / 7739
|
|
24
|
(HPO:0006582)
|
Reye syndrome-like episodes |
|
|
1537353
|
IBIS
|
5 / 7739
|
|
25
|
(HPO:0008160)
|
3-hydroxydicarboxylic aciduria |
|
|
1537353
|
IBIS
|
1 / 7739
|
|
26
|
(HPO:0007141)
|
Sensorimotor neuropathy |
|
|
1537353
|
IBIS
|
27 / 7739
|
|
27
|
(HPO:0001635)
|
Congestive heart failure |
|
|
1537353
|
IBIS
|
232 / 7739
|
|
28
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
1537353
|
IBIS
|
62 / 7739
|
|
29
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
1537353
|
IBIS
|
28 / 7739
|
|
30
|
(HPO:0001508)
|
Failure to thrive |
|
|
26676313
|
IBIS
|
454 / 7739
|
|
31
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
26676313
|
IBIS
|
81 / 7739
|
|
32
|
(HPO:0004360)
|
Abnormality of acid-base homeostasis |
|
|
26676313
|
IBIS
|
5 / 7739
|
|
33
|
(HPO:0004386)
|
Gastrointestinal inflammation |
|
|
26676313
|
IBIS
|
5 / 7739
|
|
34
|
(MedDRA:10038749)
|
Resuscitation |
|
|
26676313
|
IBIS
|
1 / 7739
|
|
35
|
(OMIM)
|
Dilated left ventricle |
|
|
26676313
|
IBIS
|
5 / 7739
|
|
36
|
(HPO:0001711)
|
Abnormality of the left ventricle |
|
|
26676313
|
IBIS
|
22 / 7739
|
|
37
|
(HPO:0045045)
|
Elevated plasma acylcarnitine levels |
|
|
2044590
|
IBIS
|
3 / 7739
|
|
38
|
(HPO:0002913)
|
Myoglobinuria |
|
|
22459206
|
IBIS
|
22 / 7739
|
|
39
|
(HPO:0000532)
|
Chorioretinal abnormality |
|
|
27078015
|
IBIS
|
5 / 7739
|
|
40
|
(HPO:0011675)
|
Arrhythmia |
|
|
12637776
|
IBIS
|
226 / 7739
|