1
|
(HPO:0002612)
|
Congenital hepatic fibrosis |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
25444000; 11546828
|
IBIS
|
16 / 7739
|
2
|
(HPO:0000952)
|
Jaundice |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
21980852; 20886352; 18585608; 17682971; 11546828; 21247995; 21092086; 20386319; 19458947; 16291733; 16137172; 16035090; 15519665
|
IBIS
|
105 / 7739
|
3
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
20090522; 11581451; 17682971; 11546828; 21980852; 19458947; 19458947
|
IBIS
|
131 / 7739
|
4
|
(HPO:0001395)
|
Hepatic fibrosis |
Very frequent [IBIS]
|
|
25444000
|
IBIS
|
67 / 7739
|
5
|
(HPO:0001399)
|
Hepatic failure |
Very frequent [IBIS]
|
|
25444000; 18585608; 11581451; 11546828; 11546828; 21397814; 19458947; 16035090
|
IBIS
|
80 / 7739
|
6
|
(HPO:0003281)
|
Increased serum ferritin |
Very frequent [IBIS]
|
|
25444000; 20886352; 20090522; 18585608; 17682971; 21980852; 21397814; 21092086; 20662354; 20386319; 19458947; 16035090
|
IBIS
|
32 / 7739
|
7
|
(HPO:0001410)
|
Decreased liver function |
Very frequent [IBIS]
|
|
25444000; 20090522; 16291733
|
IBIS
|
59 / 7739
|
8
|
(HPO:0012465)
|
Elevated hepatic iron concentration |
Very frequent [IBIS]
|
|
25444000; 11546828; 21247995; 21092086; 20662354; 16137172; 15519665
|
IBIS
|
8 / 7739
|
9
|
(HPO:0011031)
|
Abnormality of iron homeostasis |
Very frequent [IBIS]
|
|
25444000; 21397814; 21247995; 15519665
|
IBIS
|
16 / 7739
|
10
|
(HPO:0012463)
|
Elevated transferrin saturation |
Very frequent [IBIS]
|
|
20886352; 20090522; 17682971; 21980852; 21092086; 20386319; 16035090
|
IBIS
|
10 / 7739
|
11
|
(HPO:0000347)
|
Micrognathia |
Very frequent [Orphanet]
|
|
18585608
|
IBIS
|
426 / 7739
|
12
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
11546828; 11546828; 21980852; 20662354; 20386319; 19458947; 16035090; 15519665
|
IBIS
|
136 / 7739
|
13
|
(HPO:0012115)
|
Hepatitis |
Very frequent [Orphanet]
|
|
11546828; 11546828; 16137172
|
IBIS
|
24 / 7739
|
14
|
(HPO:0001394)
|
Cirrhosis |
|
|
25444000; 11546828; 11546828; 19458947; 19458947; 16137172; 15519665
|
IBIS
|
102 / 7739
|
15
|
(HPO:0001404)
|
Hepatocellular necrosis |
|
|
11546828
|
IBIS
|
4 / 7739
|
16
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
25444000; 18585608; 11581451; 17682971; 11546828
|
IBIS
|
358 / 7739
|
17
|
(HPO:0001562)
|
Oligohydramnios |
|
|
25444000; 11581451; 17682971; 11546828; 21247995
|
IBIS
|
75 / 7739
|
18
|
(HPO:0001790)
|
Nonimmune hydrops fetalis |
|
|
17682971
|
IBIS
|
15 / 7739
|
19
|
(HPO:0001928)
|
Abnormality of coagulation |
|
|
20886352; 20090522; 11581451; 17682971; 11546828; 21980852; 21397814; 19458947; 19458947; 16137172; 15519665
|
IBIS
|
44 / 7739
|
20
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
11546828
|
IBIS
|
88 / 7739
|
21
|
(HPO:0003452)
|
Increased serum iron |
|
|
21092086
|
IBIS
|
5 / 7739
|
22
|
(OMIM)
|
Myocardial iron deposition |
|
|
25444000
|
IBIS
|
1 / 7739
|
23
|
(OMIM)
|
Giant cell transformation |
|
|
11546828
|
IBIS
|
1 / 7739
|
24
|
(OMIM)
|
Iron deposition in acinar cells |
|
|
25444000
|
IBIS
|
1 / 7739
|
25
|
(OMIM)
|
Iron deposition in renal tubular cells |
|
|
25444000
|
IBIS
|
1 / 7739
|
26
|
(OMIM)
|
Endocrine glands with iron deposition |
|
|
25444000
|
IBIS
|
1 / 7739
|
27
|
(HPO:0006583)
|
Fatal liver failure in infancy |
|
|
25444000
|
IBIS
|
3 / 7739
|
28
|
(HPO:0002605)
|
Hepatic necrosis |
|
|
25444000
|
IBIS
|
6 / 7739
|
29
|
(HPO:0000091)
|
Abnormality of the renal tubule |
|
|
25444000
|
IBIS
|
15 / 7739
|
30
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
25444000; 21247995; 19458947
|
IBIS
|
63 / 7739
|
31
|
(HPO:0011414)
|
Hydropic placenta |
|
|
25444000
|
IBIS
|
3 / 7739
|
32
|
(HPO:0000969)
|
Edema |
|
|
25444000; 17682971; 11546828; 21247995; 20386319; 16035090
|
IBIS
|
117 / 7739
|
33
|
(HPO:0001541)
|
Ascites |
|
|
25444000; 11581451; 17682971; 21980852; 21397814; 21247995; 19458947; 16291733; 16137172; 16137172
|
IBIS
|
94 / 7739
|
34
|
(HPO:0001254)
|
Lethargy |
|
|
20090522; 15519665
|
IBIS
|
104 / 7739
|
35
|
(HPO:0002045)
|
Hypothermia |
|
|
20090522
|
IBIS
|
27 / 7739
|
36
|
(HPO:0008151)
|
Prolonged prothrombin time |
|
|
20090522; 11546828; 20386319; 16137172
|
IBIS
|
13 / 7739
|
37
|
(HPO:0003826)
|
Stillbirth |
|
|
18585608; 11581451; 11546828
|
IBIS
|
40 / 7739
|
38
|
(HPO:0003811)
|
Neonatal death |
|
|
18585608; 11546828; 21247995; 19458947
|
IBIS
|
44 / 7739
|
39
|
(HPO:0001518)
|
Small for gestational age |
|
|
18585608; 11581451
|
IBIS
|
107 / 7739
|
40
|
(HPO:0002098)
|
Respiratory distress |
|
|
18585608; 21247995; 19458947; 16137172
|
IBIS
|
75 / 7739
|
41
|
(HPO:0002615)
|
Hypotension |
|
|
18585608; 11546828; 19458947
|
IBIS
|
52 / 7739
|
42
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
18585608; 11546828; 16291733
|
IBIS
|
81 / 7739
|
43
|
(HPO:0000325)
|
Triangular face |
|
|
18585608
|
IBIS
|
91 / 7739
|
44
|
(HPO:0000236)
|
Abnormality of the anterior fontanelle |
|
|
18585608
|
IBIS
|
1 / 7739
|
45
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
18585608
|
IBIS
|
21 / 7739
|
46
|
(HPO:0000400)
|
Macrotia |
|
|
18585608
|
IBIS
|
108 / 7739
|
47
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
18585608; 11581451; 17682971; 16137172
|
IBIS
|
40 / 7739
|
48
|
(HPO:0001903)
|
Anemia |
|
|
18585608; 11581451; 11546828; 21247995; 19458947
|
IBIS
|
289 / 7739
|
49
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
18585608; 11581451; 11546828; 21397814; 19458947; 16137172
|
IBIS
|
224 / 7739
|
50
|
(HPO:0005521)
|
Disseminated intravascular coagulation |
|
|
18585608
|
IBIS
|
5 / 7739
|
51
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
|
|
18585608
|
IBIS
|
97 / 7739
|
52
|
(MedDRA:10022963)
|
Iron binding capacity total decreased |
|
|
18585608
|
IBIS
|
1 / 7739
|
53
|
(HPO:0000083)
|
Renal insufficiency |
|
|
18585608; 11546828
|
IBIS
|
232 / 7739
|
54
|
(HPO:0000846)
|
Adrenal insufficiency |
|
|
18585608
|
IBIS
|
24 / 7739
|
55
|
(HPO:0000126)
|
Hydronephrosis |
|
|
18585608
|
IBIS
|
119 / 7739
|
56
|
(HPO:0012571)
|
Ureter fissus |
|
|
18585608
|
IBIS
|
1 / 7739
|
57
|
(HPO:0005343)
|
Hypoplasia of the bladder |
|
|
18585608
|
IBIS
|
4 / 7739
|
58
|
(HPO:0001631)
|
Atria septal defect |
|
|
18585608
|
IBIS
|
274 / 7739
|
59
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
18585608
|
IBIS
|
228 / 7739
|
60
|
(HPO:0001561)
|
Polyhydramnios |
|
|
11581451
|
IBIS
|
191 / 7739
|
61
|
(HPO:0011899)
|
Hyperfibrinogenemia |
|
|
11581451
|
IBIS
|
1 / 7739
|
62
|
(HPO:0001622)
|
Premature birth |
|
|
17682971
|
IBIS
|
100 / 7739
|
63
|
(MedDRA:10028154)
|
Multi-organ failure |
|
|
17682971; 19458947; 15519665
|
IBIS
|
3 / 7739
|
64
|
(HPO:0100520)
|
Oliguria |
|
|
17682971; 19458947
|
IBIS
|
14 / 7739
|
65
|
(HPO:0006254)
|
Elevated alpha-fetoprotein |
|
|
17682971; 21980852; 21092086; 20386319
|
IBIS
|
10 / 7739
|
66
|
(HPO:0012021)
|
Persistent patent ductus venosus |
|
|
17682971; 19458947; 16291733; 15519665
|
IBIS
|
2 / 7739
|
67
|
(HPO:0011954)
|
Nodular regenerative hyperplasia of liver |
|
|
11546828
|
IBIS
|
1 / 7739
|
68
|
(HPO:0002240)
|
Hepatomegaly |
|
|
11546828; 21247995; 21092086; 20662354; 20386319; 16035090; 15519665
|
IBIS
|
467 / 7739
|
69
|
(HPO:0100519)
|
Anuria |
|
|
11546828; 19458947
|
IBIS
|
20 / 7739
|
70
|
(HPO:0001744)
|
Splenomegaly |
|
|
11546828; 20386319; 16137172
|
IBIS
|
337 / 7739
|
71
|
(HPO:0000967)
|
Petechiae |
|
|
11546828
|
IBIS
|
26 / 7739
|
72
|
(HPO:0002789)
|
Tachypnea |
|
|
11546828; 21247995; 19458947
|
IBIS
|
48 / 7739
|
73
|
(HPO:0002248)
|
Hematemesis |
|
|
11546828; 19458947
|
IBIS
|
12 / 7739
|
74
|
(HPO:0002249)
|
Melena |
|
|
11546828
|
IBIS
|
11 / 7739
|
75
|
(HPO:0001684)
|
Secundum atrial septal defect |
|
|
21980852
|
IBIS
|
14 / 7739
|
76
|
(HPO:0006554)
|
Acute hepatic failure |
|
|
21980852
|
IBIS
|
20 / 7739
|
77
|
(HPO:0003355)
|
Aminoaciduria |
|
|
21980852
|
IBIS
|
65 / 7739
|
78
|
(HPO:0003075)
|
Hypoproteinemia |
|
|
21397814
|
IBIS
|
27 / 7739
|
79
|
(HPO:0001250)
|
Seizures |
|
|
21397814
|
IBIS
|
1245 / 7739
|
80
|
(HPO:0000573)
|
Retinal hemorrhage |
|
|
21397814
|
IBIS
|
13 / 7739
|
81
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
21397814
|
IBIS
|
31 / 7739
|
82
|
(HPO:0011505)
|
Cystoid macular edema |
|
|
21397814
|
IBIS
|
8 / 7739
|
83
|
(HPO:0012510)
|
Extra-axial cerebrospinal fluid accumulation |
|
|
21397814
|
IBIS
|
1 / 7739
|
84
|
(HPO:0002408)
|
Cerebral arteriovenous malformation |
|
|
21397814
|
IBIS
|
7 / 7739
|
85
|
(HPO:0001649)
|
Tachycardia |
|
|
21247995
|
IBIS
|
53 / 7739
|
86
|
(HPO:0012420)
|
Meconium stained amniotic fluid |
|
|
21247995; 20386319
|
IBIS
|
1 / 7739
|
87
|
(HPO:0003270)
|
Abdominal distention |
|
|
21092086; 16035090
|
IBIS
|
46 / 7739
|
88
|
(HPO:0002013)
|
Vomiting |
|
|
20662354
|
IBIS
|
191 / 7739
|
89
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
20662354
|
IBIS
|
26 / 7739
|
90
|
(HPO:0003074)
|
Hyperglycemia |
|
|
20662354
|
IBIS
|
37 / 7739
|
91
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
20662354
|
IBIS
|
67 / 7739
|
92
|
(HPO:0000857)
|
Neonatal insulin-dependent diabetes mellitus |
|
|
20662354
|
IBIS
|
7 / 7739
|
93
|
(HPO:0003265)
|
Neonatal hyperbilirubinemia |
|
|
20090522; 18585608; 11581451; 17682971; 21397814; 21247995; 20662354; 19458947; 16137172
|
IBIS
|
6 / 7739
|
94
|
(HPO:0001522)
|
Death in infancy |
|
|
20662354; 16137172; 15519665
|
IBIS
|
275 / 7739
|
95
|
(HPO:0001336)
|
Myoclonus |
|
|
20386319
|
IBIS
|
115 / 7739
|
96
|
(HPO:0001409)
|
Portal hypertension |
|
|
19458947
|
IBIS
|
39 / 7739
|
97
|
(HPO:0002092)
|
Pulmonary hypertension |
|
|
19458947
|
IBIS
|
109 / 7739
|
98
|
(HPO:0006574)
|
Hepatic arteriovenous malformation |
|
|
19458947
|
IBIS
|
5 / 7739
|
99
|
(HPO:0001640)
|
Cardiomegaly |
|
|
19458947
|
IBIS
|
81 / 7739
|
100
|
(HPO:0005180)
|
Tricuspid regurgitation |
|
|
19458947
|
IBIS
|
20 / 7739
|
101
|
(HPO:0010881)
|
Abnormality of the umbilical cord |
|
|
19458947
|
IBIS
|
1 / 7739
|
102
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
19458947
|
IBIS
|
75 / 7739
|
103
|
(HPO:0012498)
|
Nuchal cord |
|
|
16291733
|
IBIS
|
1 / 7739
|
104
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
16291733
|
IBIS
|
78 / 7739
|
105
|
(HPO:0000737)
|
Irritability |
|
|
16137172
|
IBIS
|
93 / 7739
|
106
|
(MedDRA:10057870)
|
Head lag |
|
|
16137172
|
IBIS
|
3 / 7739
|
107
|
(HPO:0001276)
|
Hypertonia |
|
|
16137172
|
IBIS
|
317 / 7739
|
108
|
(HPO:0010702)
|
Increased antibody level in blood |
|
|
16137172
|
IBIS
|
29 / 7739
|
109
|
(HPO:0001298)
|
Encephalopathy |
|
|
16035090
|
IBIS
|
72 / 7739
|
110
|
(HPO:0010949)
|
Abnormality of umbilical vein blood flow |
|
|
15519665
|
IBIS
|
1 / 7739
|