Symptom Information: Sort according to HPO 

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