Symptom Information: Sort according to HPO 

1
(HPO:0003656) Decreased beta-glucocerebrosidase protein and activity Very frequent [IBIS] 3385740; 25755533 IBIS 5 / 7739
2
(HPO:0001903) Anemia Frequent [IBIS] Frequent [Orphanet] 3385740; 11241475; 25755533; 24588457; 12919144 IBIS 289 / 7739
3
(HPO:0001433) Hepatosplenomegaly Frequent [IBIS] 11241475; 25755533; 24588457 IBIS 78 / 7739
4
(HPO:0001892) Abnormal bleeding Frequent [IBIS] 25755533; 24588457 IBIS 85 / 7739
5
(HPO:0000225) Gingival bleeding Occasional [IBIS] Frequent [Orphanet] 17397330 IBIS 28 / 7739
6
(HPO:0006530) Interstitial pulmonary disease Occasional [IBIS] 25755533; 26604942 IBIS 26 / 7739
7
(HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 26603719 IBIS 78 / 7739
8
(HPO:0001394) Cirrhosis Occasional [Orphanet] 25755533 IBIS 102 / 7739
9
(HPO:0010702) Increased antibody level in blood Occasional [Orphanet] 24588457 IBIS 29 / 7739
10
(HPO:0002758) Osteoarthritis Occasional [Orphanet] 23765538 IBIS 78 / 7739
11
(HPO:0001882) Leukopenia Occasional [Orphanet] 25755533; 22046515 IBIS 51 / 7739
12
(HPO:0000978) Bruising susceptibility Frequent [Orphanet] 25755533 IBIS 123 / 7739
13
(HPO:0000093) Proteinuria Occasional [Orphanet] 16253723 IBIS 169 / 7739
14
(HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 3385740; 25755533; 24588457; 12919144 IBIS 224 / 7739
15
(HPO:0002797) Osteolysis Very frequent [Orphanet] 25755533 IBIS 68 / 7739
16
(HPO:0002653) Bone pain Very frequent [Orphanet] 11241475; 25755533; 24588457; 12919144 IBIS 75 / 7739
17
(HPO:0002027) Abdominal pain Frequent [Orphanet] 25755533 IBIS 184 / 7739
18
(HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 25755533 IBIS 109 / 7739
19
(HPO:0000790) Hematuria Occasional [Orphanet] 12581195 IBIS 106 / 7739
20
(HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 26604942 IBIS 110 / 7739
21
(HPO:0001876) Pancytopenia Frequent [Orphanet] 11241475 IBIS 89 / 7739
22
(HPO:0002808) Kyphosis Frequent [Orphanet] 25755533 IBIS 289 / 7739
23
(HPO:0010885) Aseptic necrosis Very frequent [Orphanet] 3385740; 25755533; 24588457; 26604942 IBIS 24 / 7739
24
(HPO:0001744) Splenomegaly Very frequent [Orphanet] 11241475; 25755533; 12919144 IBIS 337 / 7739
25
(HPO:0002240) Hepatomegaly Very frequent [Orphanet] 11241475; 25755533 IBIS 467 / 7739
26
(HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 25755533 IBIS 250 / 7739
27
(HPO:0000421) Epistaxis 11241475; 25755533 IBIS 85 / 7739
28
(HPO:0000478) Abnormality of the eye 25755533 IBIS 126 / 7739
29
(HPO:0001971) Hypersplenism 25755533 IBIS 8 / 7739
30
(HPO:0002094) Dyspnea 25755533 IBIS 132 / 7739
31
(HPO:0002756) Pathologic fracture 25755533; 26604943 IBIS 30 / 7739
32
(HPO:0001369) Arthritis 3385740; 22046515 IBIS 44 / 7739
33
(HPO:0002953) Vertebral compression fractures 3385740 IBIS 14 / 7739
34
(HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 25755533 IBIS 165 / 7739
35
(HPO:0004975) Erlenmeyer flask deformity of the femurs 25755533 IBIS 8 / 7739
36
(HPO:0006775) Multiple myeloma 25755533 IBIS 10 / 7739
37
(OMIM) Bone crises 25755533 IBIS 3 / 7739
38
(OMIM) Avascular necrosis of femoral head 24588457 IBIS 2 / 7739
39
(OMIM) Increased risk for multiple myeloma 24588457 IBIS 1 / 7739
40
(HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 25755533 IBIS 156 / 7739
41
(HPO:0005743) Avascular necrosis of the capital femoral epiphysis 3342593; 3385740; 25755533 IBIS 17 / 7739
42
(HPO:0003084) Fractures of the long bones 3385740 IBIS 5 / 7739
43
(HPO:0003365) Arthralgia of the hip 3385740; 11241475 IBIS 10 / 7739
44
(HPO:0030157) Flank pain 11241475 IBIS 5 / 7739
45
(HPO:0001538) Protuberant abdomen 11241475 IBIS 36 / 7739
46
(HPO:0002754) Osteomyelitis 11241475; 26604943 IBIS 37 / 7739
47
(HPO:0001626) Abnormality of the cardiovascular system 11241475 IBIS 73 / 7739
48
(HPO:0100539) Periorbital edema 11241475 IBIS 8 / 7739
49
(HPO:0002650) Scoliosis 25755533 IBIS 705 / 7739
50
(HPO:0000765) Abnormality of the thorax 25755533 IBIS 64 / 7739
51
(HPO:0000938) Osteopenia 25755533 IBIS 138 / 7739
52
(HPO:0005789) Generalized osteosclerosis 25755533 IBIS 10 / 7739
53
(MedDRA:10059186) Early satiety 25755533 IBIS 4 / 7739
54
(HPO:0002014) Diarrhea 25755533 IBIS 225 / 7739
55
(MedDRA:10041648) Splenic infarction 25755533 IBIS 3 / 7739
56
(HPO:0001743) Abnormality of the spleen 25755533 IBIS 37 / 7739
57
(HPO:0001409) Portal hypertension 25755533 IBIS 39 / 7739
58
(HPO:0001081) Cholelithiasis 25755533; 11987238 IBIS 36 / 7739
59
(HPO:0012378) Fatigue 25755533 IBIS 50 / 7739
60
(HPO:0002875) Exertional dyspnea 25755533 IBIS 29 / 7739
61
(HPO:0000132) Menorrhagia 25755533 IBIS 40 / 7739
62
(HPO:0002205) Recurrent respiratory infections 25755533 IBIS 254 / 7739
63
(HPO:0001279) Syncope 25755533 IBIS 94 / 7739
64
(MedDRA:10052274) Hepatopulmonary syndrome 25755533 IBIS 3 / 7739
65
(HPO:0001217) Clubbing 25755533 IBIS 39 / 7739
66
(HPO:0000961) Cyanosis 25755533 IBIS 60 / 7739
67
(HPO:0012764) Orthopnea 25755533 IBIS 9 / 7739
68
(HPO:0007420) Spontaneous hematomas 25755533 IBIS 9 / 7739
69
(HPO:0000967) Petechiae 25755533 IBIS 26 / 7739
70
(HPO:0005146) Cardiac valve calcification 25755533 IBIS 4 / 7739
71
(HPO:0001635) Congestive heart failure 25755533 IBIS 232 / 7739
72
(HPO:0011675) Arrhythmia 25755533 IBIS 226 / 7739
73
(MedDRA:10035060) Pinguecula 25755533 IBIS 4 / 7739
74
(HPO:0007957) Corneal opacity 25755533 IBIS 84 / 7739
75
(HPO:0002716) Lymphadenopathy 25755533 IBIS 129 / 7739
76
(HPO:0004377) Hematological neoplasm 25755533 IBIS 12 / 7739
77
(HPO:0001402) Hepatocellular carcinoma 25755533 IBIS 25 / 7739
78
(HPO:0003270) Abdominal distention 25755533 IBIS 46 / 7739
79
(OMIM) Gaucher cells in bone marrow 25755533 IBIS 5 / 7739
80
(HPO:0001928) Abnormality of coagulation 25755533 IBIS 44 / 7739
81
(HPO:0011869) Abnormal platelet function 25755533 IBIS 12 / 7739
82
(HPO:0001510) Growth delay 25755533 IBIS 295 / 7739
83
(HPO:0000823) Delayed puberty 25755533 IBIS 65 / 7739
84
(HPO:0001508) Failure to thrive 25755533 IBIS 454 / 7739
85
(HPO:0001263) Global developmental delay 25755533 IBIS 853 / 7739
86
(HPO:0000939) Osteoporosis 25755533; 26604943 IBIS 129 / 7739
87
(HPO:0005561) Abnormality of bone marrow cell morphology 25755533 IBIS 11 / 7739
88
(HPO:0001974) Leukocytosis 25755533 IBIS 33 / 7739
89
(HPO:0001395) Hepatic fibrosis 25755533 IBIS 67 / 7739
90
(HPO:0003281) Increased serum ferritin 24588457 IBIS 32 / 7739
91
(HPO:0001000) Abnormality of skin pigmentation 12919144 IBIS 105 / 7739