1
|
(HPO:0011014)
|
Abnormal glucose homeostasis |
Very frequent [IBIS]
|
|
25288127
|
IBIS
|
5 / 7739
|
2
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [IBIS]
|
|
25288127
|
IBIS
|
131 / 7739
|
3
|
(HPO:0001875)
|
Neutropenia |
|
|
25288127
|
IBIS
|
83 / 7739
|
4
|
(HPO:0004311)
|
Abnormality of macrophages |
|
|
25288127
|
IBIS
|
7 / 7739
|
5
|
(HPO:0010974)
|
Abnormality of myeloid leukocytes |
|
|
25288127
|
IBIS
|
6 / 7739
|
6
|
(HPO:0002240)
|
Hepatomegaly |
|
|
12373567
|
IBIS
|
467 / 7739
|
7
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
25288127
|
IBIS
|
30 / 7739
|
8
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
12373567
|
IBIS
|
37 / 7739
|
9
|
(HPO:0002149)
|
Hyperuricemia |
|
|
12373567
|
IBIS
|
37 / 7739
|
10
|
(HPO:0003128)
|
Lactic acidosis |
|
|
25288127
|
IBIS
|
116 / 7739
|
11
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
25288127
|
IBIS
|
25 / 7739
|
12
|
(HPO:0000939)
|
Osteoporosis |
|
|
25288127
|
IBIS
|
129 / 7739
|
13
|
(HPO:0001997)
|
Gout |
|
|
25288127
|
IBIS
|
18 / 7739
|
14
|
(HPO:0004363)
|
Abnormality of calcium homeostasis |
|
|
25288127
|
IBIS
|
4 / 7739
|
15
|
(HPO:0010977)
|
Abnormality of phagocytes |
|
|
25288127
|
IBIS
|
4 / 7739
|
16
|
(HPO:0002037)
|
Inflammation of the large intestine |
|
|
25288127
|
IBIS
|
25 / 7739
|
17
|
(HPO:0003206)
|
Decreased activity of NADPH oxidase |
|
|
25288127
|
IBIS
|
8 / 7739
|
18
|
(HPO:0004322)
|
Short stature |
|
|
20975743
|
IBIS
|
1232 / 7739
|
19
|
(HPO:0000821)
|
Hypothyroidism |
|
|
20975743
|
IBIS
|
141 / 7739
|
20
|
(HPO:0000093)
|
Proteinuria |
|
|
20975743
|
IBIS
|
169 / 7739
|
21
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
12373567
|
IBIS
|
36 / 7739
|
22
|
(HPO:0001510)
|
Growth delay |
|
|
12373567
|
IBIS
|
295 / 7739
|
23
|
(HPO:0001508)
|
Failure to thrive |
|
|
12373567
|
IBIS
|
454 / 7739
|
24
|
(HPO:0001259)
|
Coma |
|
|
12373567
|
IBIS
|
65 / 7739
|
25
|
(HPO:0002197)
|
Generalized seizures |
|
|
12373567
|
IBIS
|
30 / 7739
|
26
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
12373567
|
IBIS
|
64 / 7739
|
27
|
(HPO:0000980)
|
Pallor |
|
|
12373567
|
IBIS
|
52 / 7739
|
28
|
(HPO:0002013)
|
Vomiting |
|
|
12373567
|
IBIS
|
191 / 7739
|
29
|
(HPO:0002014)
|
Diarrhea |
|
|
12373567
|
IBIS
|
225 / 7739
|
30
|
(HPO:0001249)
|
Intellectual disability |
|
|
12373567
|
IBIS
|
1089 / 7739
|
31
|
(HPO:0003124)
|
Hypercholesterolemia |
|
|
12373567
|
IBIS
|
53 / 7739
|
32
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
12373567
|
IBIS
|
67 / 7739
|
33
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
12373567
|
IBIS
|
57 / 7739
|
34
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
12373567
|
IBIS
|
88 / 7739
|
35
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
12373567
|
IBIS
|
85 / 7739
|
36
|
(HPO:0000421)
|
Epistaxis |
|
|
12373567
|
IBIS
|
85 / 7739
|
37
|
(HPO:0001903)
|
Anemia |
|
|
12373567
|
IBIS
|
289 / 7739
|
38
|
(HPO:0000938)
|
Osteopenia |
|
|
12373567
|
IBIS
|
138 / 7739
|
39
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
12373567
|
IBIS
|
78 / 7739
|
40
|
(HPO:0001744)
|
Splenomegaly |
|
|
12373567
|
IBIS
|
337 / 7739
|
41
|
(HPO:0012594)
|
Microalbuminuria |
|
|
12373567
|
IBIS
|
6 / 7739
|
42
|
(HPO:0000822)
|
Hypertension |
|
|
12373567
|
IBIS
|
224 / 7739
|
43
|
(HPO:0000823)
|
Delayed puberty |
|
|
12373567
|
IBIS
|
65 / 7739
|
44
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
12373567
|
IBIS
|
250 / 7739
|
45
|
(HPO:0000295)
|
Doll-like facies |
|
|
12373567
|
IBIS
|
5 / 7739
|
46
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
17410288
|
IBIS
|
158 / 7739
|
47
|
(HPO:0012212)
|
Abnormal glomerular filtration rate |
|
|
17410288
|
IBIS
|
4 / 7739
|
48
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
19808227
|
IBIS
|
27 / 7739
|
49
|
(HPO:0012028)
|
Hepatocellular adenoma |
|
|
12373567
|
IBIS
|
6 / 7739
|
50
|
(HPO:0000660)
|
Lipemia retinalis |
|
|
7746653
|
IBIS
|
7 / 7739
|
51
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
25288127
|
IBIS
|
109 / 7739
|
52
|
(HPO:0000097)
|
Focal segmental glomerulosclerosis |
|
|
3422104
|
IBIS
|
37 / 7739
|
53
|
(HPO:0001733)
|
Pancreatitis |
|
|
12373567
|
IBIS
|
46 / 7739
|
54
|
(HPO:0000132)
|
Menorrhagia |
|
|
24201678
|
IBIS
|
40 / 7739
|
55
|
(HPO:0000083)
|
Renal insufficiency |
|
|
20975743
|
IBIS
|
232 / 7739
|
56
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
20975743
|
IBIS
|
75 / 7739
|
57
|
(HPO:0000155)
|
Oral ulcer |
|
|
17168629
|
IBIS
|
9 / 7739
|
58
|
(HPO:0001881)
|
Abnormality of leukocytes |
|
|
25288127
|
IBIS
|
6 / 7739
|
59
|
(HPO:0002721)
|
Immunodeficiency |
|
|
25288127
|
IBIS
|
97 / 7739
|
60
|
(HPO:0002719)
|
Recurrent infections |
|
|
20975743
|
IBIS
|
107 / 7739
|