1
|
(HPO:0003656)
|
Decreased beta-glucocerebrosidase protein and activity |
Very frequent [IBIS]
|
|
25755533; 25219293
|
IBIS
|
5 / 7739
|
2
|
(HPO:0001903)
|
Anemia |
Frequent [IBIS]
Frequent [Orphanet]
|
|
25755533; 7160406; 25219293; 20307947
|
IBIS
|
289 / 7739
|
3
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [IBIS]
Frequent [Orphanet]
|
|
25755533; 24588457; 7160406; 25219293; 20307947
|
IBIS
|
224 / 7739
|
4
|
(HPO:0000486)
|
Strabismus |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
25755533; 4003050; 25859481; 20307947; 19481486
|
IBIS
|
576 / 7739
|
5
|
(HPO:0001433)
|
Hepatosplenomegaly |
Frequent [IBIS]
|
|
25755533; 24588457; 25219293; 25859481; 19481486
|
IBIS
|
78 / 7739
|
6
|
(HPO:0000657)
|
Oculomotor apraxia |
Frequent [IBIS]
|
|
25755533; 4003050; 25219293; 20307947
|
IBIS
|
54 / 7739
|
7
|
(HPO:0000496)
|
Abnormality of eye movement |
Very frequent [Orphanet]
|
|
25755533; 25219293
|
IBIS
|
79 / 7739
|
8
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
25755533
|
IBIS
|
317 / 7739
|
9
|
(HPO:0001882)
|
Leukopenia |
Frequent [Orphanet]
|
|
25755533; 7160406
|
IBIS
|
51 / 7739
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
25755533
|
IBIS
|
413 / 7739
|
11
|
(HPO:0000726)
|
Dementia |
|
|
25755533; 8413956; 25859481
|
IBIS
|
131 / 7739
|
12
|
(HPO:0001268)
|
Mental deterioration |
|
|
24588457
|
IBIS
|
88 / 7739
|
13
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
25755533; 26693402
|
IBIS
|
68 / 7739
|
14
|
(HPO:0002653)
|
Bone pain |
Very frequent [Orphanet]
|
|
25755533; 26693402
|
IBIS
|
75 / 7739
|
15
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
20307947
|
IBIS
|
56 / 7739
|
16
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [Orphanet]
|
|
25755533
|
IBIS
|
109 / 7739
|
17
|
(HPO:0002205)
|
Recurrent respiratory infections |
Occasional [Orphanet]
|
|
25755533
|
IBIS
|
254 / 7739
|
18
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
25219293
|
IBIS
|
110 / 7739
|
19
|
(HPO:0010885)
|
Aseptic necrosis |
Very frequent [Orphanet]
|
|
20307947
|
IBIS
|
24 / 7739
|
20
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
20307947
|
IBIS
|
318 / 7739
|
21
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
25755533; 20307947
|
IBIS
|
337 / 7739
|
22
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
25755533
|
IBIS
|
467 / 7739
|
23
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
25755533; 25859481; 20307947; 19481486
|
IBIS
|
1245 / 7739
|
24
|
(HPO:0002091)
|
Restrictive ventilatory defect |
Occasional [Orphanet]
|
|
25219293; 20307947
|
IBIS
|
46 / 7739
|
25
|
(HPO:0000716)
|
Depression |
|
|
20307947
|
IBIS
|
99 / 7739
|
26
|
(HPO:0001249)
|
Intellectual disability |
|
|
20307947
|
IBIS
|
1089 / 7739
|
27
|
(HPO:0001263)
|
Global developmental delay |
|
|
25755533; 25219293; 19481486; 19481486
|
IBIS
|
853 / 7739
|
28
|
(HPO:0001336)
|
Myoclonus |
|
|
25755533; 8413956; 20307947; 19481486
|
IBIS
|
115 / 7739
|
29
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
24588457; 8780099
|
IBIS
|
62 / 7739
|
30
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
25755533
|
IBIS
|
27 / 7739
|
31
|
(HPO:0004322)
|
Short stature |
|
|
8413956
|
IBIS
|
1232 / 7739
|
32
|
(HPO:0007817)
|
Horizontal supranuclear gaze palsy |
|
|
24588457; 24588457; 8413956
|
IBIS
|
3 / 7739
|
33
|
(OMIM)
|
Gaucher cells in bone marrow |
|
|
25755533
|
IBIS
|
5 / 7739
|
34
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
8413956
|
IBIS
|
492 / 7739
|
35
|
(OMIM)
|
Bone crises |
|
|
25755533
|
IBIS
|
3 / 7739
|
36
|
(HPO:0002808)
|
Kyphosis |
|
|
25755533; 24588457
|
IBIS
|
289 / 7739
|
37
|
(HPO:0002650)
|
Scoliosis |
|
|
25755533
|
IBIS
|
705 / 7739
|
38
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
25755533
|
IBIS
|
64 / 7739
|
39
|
(HPO:0004975)
|
Erlenmeyer flask deformity of the femurs |
|
|
25755533; 26693402
|
IBIS
|
8 / 7739
|
40
|
(HPO:0000938)
|
Osteopenia |
|
|
25755533; 26693402; 20307947
|
IBIS
|
138 / 7739
|
41
|
(HPO:0005743)
|
Avascular necrosis of the capital femoral epiphysis |
|
|
25755533
|
IBIS
|
17 / 7739
|
42
|
(HPO:0005789)
|
Generalized osteosclerosis |
|
|
25755533
|
IBIS
|
10 / 7739
|
43
|
(HPO:0002027)
|
Abdominal pain |
|
|
25755533
|
IBIS
|
184 / 7739
|
44
|
(MedDRA:10059186)
|
Early satiety |
|
|
25755533
|
IBIS
|
4 / 7739
|
45
|
(HPO:0002014)
|
Diarrhea |
|
|
25755533; 25219293
|
IBIS
|
225 / 7739
|
46
|
(MedDRA:10041648)
|
Splenic infarction |
|
|
25755533
|
IBIS
|
3 / 7739
|
47
|
(HPO:0001743)
|
Abnormality of the spleen |
|
|
25755533
|
IBIS
|
37 / 7739
|
48
|
(HPO:0001394)
|
Cirrhosis |
|
|
25755533
|
IBIS
|
102 / 7739
|
49
|
(HPO:0001409)
|
Portal hypertension |
|
|
25755533
|
IBIS
|
39 / 7739
|
50
|
(HPO:0001081)
|
Cholelithiasis |
|
|
25755533
|
IBIS
|
36 / 7739
|
51
|
(HPO:0012378)
|
Fatigue |
|
|
25755533
|
IBIS
|
50 / 7739
|
52
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
25755533
|
IBIS
|
29 / 7739
|
53
|
(HPO:0000421)
|
Epistaxis |
|
|
25755533
|
IBIS
|
85 / 7739
|
54
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
25755533; 24588457
|
IBIS
|
85 / 7739
|
55
|
(HPO:0000132)
|
Menorrhagia |
|
|
25755533
|
IBIS
|
40 / 7739
|
56
|
(HPO:0002094)
|
Dyspnea |
|
|
25755533; 25219293
|
IBIS
|
132 / 7739
|
57
|
(HPO:0001279)
|
Syncope |
|
|
25755533
|
IBIS
|
94 / 7739
|
58
|
(MedDRA:10052274)
|
Hepatopulmonary syndrome |
|
|
25755533
|
IBIS
|
3 / 7739
|
59
|
(HPO:0001217)
|
Clubbing |
|
|
25755533
|
IBIS
|
39 / 7739
|
60
|
(HPO:0000961)
|
Cyanosis |
|
|
25755533
|
IBIS
|
60 / 7739
|
61
|
(HPO:0012764)
|
Orthopnea |
|
|
25755533
|
IBIS
|
9 / 7739
|
62
|
(HPO:0000605)
|
Supranuclear gaze palsy |
|
|
25755533
|
IBIS
|
16 / 7739
|
63
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
25755533
|
IBIS
|
21 / 7739
|
64
|
(HPO:0002063)
|
Rigidity |
|
|
25755533
|
IBIS
|
92 / 7739
|
65
|
(HPO:0002179)
|
Opisthotonus |
|
|
25755533
|
IBIS
|
35 / 7739
|
66
|
(HPO:0001283)
|
Bulbar palsy |
|
|
25755533
|
IBIS
|
31 / 7739
|
67
|
(HPO:0007420)
|
Spontaneous hematomas |
|
|
25755533
|
IBIS
|
9 / 7739
|
68
|
(HPO:0000967)
|
Petechiae |
|
|
25755533
|
IBIS
|
26 / 7739
|
69
|
(HPO:0005146)
|
Cardiac valve calcification |
|
|
25755533; 19481486
|
IBIS
|
4 / 7739
|
70
|
(HPO:0001635)
|
Congestive heart failure |
|
|
25755533
|
IBIS
|
232 / 7739
|
71
|
(HPO:0011675)
|
Arrhythmia |
|
|
25755533
|
IBIS
|
226 / 7739
|
72
|
(MedDRA:10035060)
|
Pinguecula |
|
|
25755533
|
IBIS
|
4 / 7739
|
73
|
(HPO:0007957)
|
Corneal opacity |
|
|
25755533; 19481486
|
IBIS
|
84 / 7739
|
74
|
(HPO:0002716)
|
Lymphadenopathy |
|
|
25755533; 25219293
|
IBIS
|
129 / 7739
|
75
|
(HPO:0006775)
|
Multiple myeloma |
|
|
25755533
|
IBIS
|
10 / 7739
|
76
|
(HPO:0004377)
|
Hematological neoplasm |
|
|
25755533
|
IBIS
|
12 / 7739
|
77
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
25755533
|
IBIS
|
25 / 7739
|
78
|
(HPO:0000570)
|
Abnormality of saccadic eye movements |
|
|
25755533; 20307947
|
IBIS
|
12 / 7739
|
79
|
(HPO:0002015)
|
Dysphagia |
|
|
25755533; 20307947
|
IBIS
|
301 / 7739
|
80
|
(HPO:0001508)
|
Failure to thrive |
|
|
25755533
|
IBIS
|
454 / 7739
|
81
|
(HPO:0001510)
|
Growth delay |
|
|
25755533; 24588457; 25219293
|
IBIS
|
295 / 7739
|
82
|
(MedDRA:10064833)
|
Retinal infiltrates |
|
|
4003050
|
IBIS
|
1 / 7739
|
83
|
(HPO:0000479)
|
Abnormality of the retina |
|
|
4003050
|
IBIS
|
74 / 7739
|
84
|
(HPO:0000545)
|
Myopia |
|
|
4003050
|
IBIS
|
286 / 7739
|
85
|
(MedDRA:10067015)
|
Retroperitoneal lymphadenopathy |
|
|
25219293
|
IBIS
|
1 / 7739
|
86
|
(HPO:0002446)
|
Astrocytosis |
|
|
25219293
|
IBIS
|
7 / 7739
|
87
|
(HPO:0002180)
|
Neurodegeneration |
|
|
25219293
|
IBIS
|
31 / 7739
|
88
|
(MedDRA:10047924)
|
Wheezing |
|
|
25219293
|
IBIS
|
8 / 7739
|
89
|
(HPO:0006530)
|
Interstitial pulmonary disease |
|
|
25219293; 20307947
|
IBIS
|
26 / 7739
|
90
|
(HPO:0003270)
|
Abdominal distention |
|
|
25219293
|
IBIS
|
46 / 7739
|
91
|
(HPO:0002024)
|
Malabsorption |
|
|
25219293
|
IBIS
|
142 / 7739
|
92
|
(HPO:0002243)
|
Protein-losing enteropathy |
|
|
25219293
|
IBIS
|
8 / 7739
|
93
|
(HPO:0003111)
|
Abnormality of ion homeostasis |
|
|
25219293
|
IBIS
|
1 / 7739
|
94
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
25219293
|
IBIS
|
40 / 7739
|
95
|
(HPO:0000969)
|
Edema |
|
|
25219293
|
IBIS
|
117 / 7739
|
96
|
(HPO:0001541)
|
Ascites |
|
|
25219293
|
IBIS
|
94 / 7739
|
97
|
(HPO:0100724)
|
Hypercoagulability |
|
|
25219293
|
IBIS
|
15 / 7739
|
98
|
(HPO:0001977)
|
Abnormal thrombosis |
|
|
25219293
|
IBIS
|
11 / 7739
|
99
|
(HPO:0000939)
|
Osteoporosis |
|
|
25219293
|
IBIS
|
129 / 7739
|
100
|
(HPO:0002013)
|
Vomiting |
|
|
25219293
|
IBIS
|
191 / 7739
|
101
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
25219293
|
IBIS
|
26 / 7739
|
102
|
(HPO:0002080)
|
Intention tremor |
|
|
25219293
|
IBIS
|
44 / 7739
|
103
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
25219293; 20307947
|
IBIS
|
27 / 7739
|
104
|
(HPO:0012323)
|
Sleep myoclonus |
|
|
25219293
|
IBIS
|
1 / 7739
|
105
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
25219293; 20307947
|
IBIS
|
96 / 7739
|
106
|
(HPO:0002206)
|
Pulmonary fibrosis |
|
|
25219293
|
IBIS
|
51 / 7739
|
107
|
(HPO:0040121)
|
Abnormality of the acoustic reflex |
|
|
11521209
|
IBIS
|
1 / 7739
|
108
|
(HPO:0000980)
|
Pallor |
|
|
25859481
|
IBIS
|
52 / 7739
|
109
|
(HPO:0000718)
|
Aggressive behavior |
|
|
25859481; 20307947
|
IBIS
|
109 / 7739
|
110
|
(HPO:0001337)
|
Tremor |
|
|
20307947
|
IBIS
|
200 / 7739
|
111
|
(HPO:0001332)
|
Dystonia |
|
|
20307947
|
IBIS
|
197 / 7739
|
112
|
(HPO:0001888)
|
Lymphopenia |
|
|
20307947
|
IBIS
|
43 / 7739
|
113
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
20307947
|
IBIS
|
14 / 7739
|
114
|
(HPO:0002942)
|
Thoracic kyphosis |
|
|
20307947
|
IBIS
|
14 / 7739
|
115
|
(HPO:0000766)
|
Abnormality of the sternum |
|
|
20307947
|
IBIS
|
31 / 7739
|
116
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
20307947
|
IBIS
|
116 / 7739
|
117
|
(HPO:0002355)
|
Difficulty walking |
|
|
20307947
|
IBIS
|
61 / 7739
|
118
|
(HPO:0000639)
|
Nystagmus |
|
|
19481486
|
IBIS
|
555 / 7739
|
119
|
(HPO:0000238)
|
Hydrocephalus |
|
|
19481486
|
IBIS
|
278 / 7739
|
120
|
(HPO:0002795)
|
Functional respiratory abnormality |
|
|
25219293; 20307947
|
IBIS
|
13 / 7739
|