|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
29690908; 27579027; 27086606; 8227344; 8614422
|
IBIS
|
454 / 7739
|
|
2
|
(HPO:0001744)
|
Splenomegaly |
|
|
4117384; 9108404
|
IBIS
|
337 / 7739
|
|
3
|
(HPO:0001880)
|
Eosinophilia |
|
|
4117384
|
IBIS
|
35 / 7739
|
|
4
|
(HPO:0001888)
|
Lymphopenia |
|
|
27579027; 27086606; 8227344; 8614422; 4117384; 8120281; 8099155; 9108404
|
IBIS
|
43 / 7739
|
|
5
|
(HPO:0001967)
|
Diffuse mesangial sclerosis |
|
|
29690908; 27579027
|
IBIS
|
11 / 7739
|
|
6
|
(HPO:0001973)
|
Autoimmune thrombocytopenia |
|
|
8227344; 8099155
|
IBIS
|
18 / 7739
|
|
7
|
(HPO:0002014)
|
Diarrhea |
|
|
29690908; 8120281; 9108404
|
IBIS
|
225 / 7739
|
|
8
|
(HPO:0002090)
|
Pneumonia |
|
|
8120281
|
IBIS
|
59 / 7739
|
|
9
|
(HPO:0002099)
|
Asthma |
|
|
8227344; 8099155; 9108404
|
IBIS
|
62 / 7739
|
|
10
|
(HPO:0002240)
|
Hepatomegaly |
|
|
8614422; 4117384; 9108404
|
IBIS
|
467 / 7739
|
|
11
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
29690908; 27579027
|
IBIS
|
75 / 7739
|
|
12
|
(HPO:0002841)
|
Recurrent fungal infections |
|
|
27579027
|
IBIS
|
16 / 7739
|
|
13
|
(HPO:0003212)
|
Increased IgE level |
|
|
29690908; 9108404
|
IBIS
|
13 / 7739
|
|
14
|
(HPO:0004429)
|
Recurrent viral infections |
|
|
29690908; 27579027
|
IBIS
|
20 / 7739
|
|
15
|
(HPO:0004430)
|
Severe combined immunodeficiency |
|
|
8120281
|
IBIS
|
16 / 7739
|
|
16
|
(HPO:0005359)
|
Aplasia of the thymus |
|
|
29690908
|
IBIS
|
6 / 7739
|
|
17
|
(HPO:0005365)
|
Severe B lymphocytopenia |
|
|
29690908
|
IBIS
|
3 / 7739
|
|
18
|
(HPO:0010976)
|
B lymphocytopenia |
|
|
27579027
|
IBIS
|
8 / 7739
|
|
19
|
(HPO:0002720)
|
IgA deficiency |
|
|
4117384
|
IBIS
|
33 / 7739
|
|
20
|
(HPO:0002850)
|
IgM deficiency |
|
|
4117384
|
IBIS
|
18 / 7739
|
|
21
|
(HPO:0030273)
|
Reduced red cell adenosine deaminase activity |
|
|
4117384; 8120281; 9108404
|
IBIS
|
1 / 7739
|
|
22
|
(HPO:0005379)
|
Severe T lymphocytopenia |
|
|
29690908
|
IBIS
|
4 / 7739
|
|
23
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
29690908
|
IBIS
|
524 / 7739
|
|
24
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
29690908; 27579027
|
IBIS
|
114 / 7739
|
|
25
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
29690908; 27579027
|
IBIS
|
47 / 7739
|
|
26
|
(HPO:0011123)
|
Inflammatory abnormality of the skin |
|
|
29690908
|
IBIS
|
10 / 7739
|
|
27
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
29690908; 27579027
|
IBIS
|
56 / 7739
|
|
28
|
(HPO:0000718)
|
Aggressive behavior |
|
|
29690908; 27579027
|
IBIS
|
109 / 7739
|
|
29
|
(HPO:0100543)
|
Cognitive impairment |
|
|
29690908; 27579027; 28074903
|
IBIS
|
230 / 7739
|
|
30
|
(MedDRA:10035742)
|
Pneumonitis |
|
|
29690908; 8120281; 9108404
|
IBIS
|
2 / 7739
|
|
31
|
(HPO:0006517)
|
Alveolar proteinosis |
|
|
29690908; 27579027
|
IBIS
|
7 / 7739
|
|
32
|
(HPO:0005575)
|
Hemolytic-uremic syndrome |
|
|
29690908
|
IBIS
|
11 / 7739
|
|
33
|
(MedDRA:10057070)
|
Dermatofibrosarcoma protuberans |
|
|
29690908; 27579027
|
IBIS
|
1 / 7739
|
|
34
|
(HPO:0002960)
|
Autoimmunity |
|
|
29690908; 27579027
|
IBIS
|
78 / 7739
|
|
35
|
(HPO:0012393)
|
Allergy |
|
|
29690908
|
IBIS
|
3 / 7739
|
|
36
|
(HPO:0005403)
|
T lymphocytopenia |
|
|
27579027
|
IBIS
|
10 / 7739
|
|
37
|
(HPO:0002843)
|
Abnormality of T cells |
|
|
27579027
|
IBIS
|
7 / 7739
|
|
38
|
(HPO:0005368)
|
Abnormality of humoral immunity |
|
|
27579027
|
IBIS
|
3 / 7739
|
|
39
|
(HPO:0000778)
|
Hypoplasia of the thymus |
|
|
27579027
|
IBIS
|
13 / 7739
|
|
40
|
(HPO:0012433)
|
Abnormal social behavior |
|
|
27579027
|
IBIS
|
7 / 7739
|
|
41
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
27579027
|
IBIS
|
23 / 7739
|
|
42
|
(HPO:0001250)
|
Seizures |
|
|
27579027; 28074903
|
IBIS
|
1245 / 7739
|
|
43
|
(HPO:0001263)
|
Global developmental delay |
|
|
27579027; 28074903; 27086606
|
IBIS
|
853 / 7739
|
|
44
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
27579027
|
IBIS
|
51 / 7739
|
|
45
|
(HPO:0000096)
|
Glomerulosclerosis |
|
|
27579027
|
IBIS
|
11 / 7739
|
|
46
|
(MedDRA:10061296)
|
Motor dysfunction |
|
|
28074903
|
IBIS
|
4 / 7739
|
|
47
|
(HPO:0002353)
|
EEG abnormality |
|
|
28074903
|
IBIS
|
188 / 7739
|
|
48
|
(HPO:0000365)
|
Hearing impairment |
|
|
28074903
|
IBIS
|
539 / 7739
|
|
49
|
(MedDRA:10067587)
|
Neurosensory hypoacusis |
|
|
28074903
|
IBIS
|
1 / 7739
|
|
50
|
(HPO:0002352)
|
Leukoencephalopathy |
|
|
28074903
|
IBIS
|
32 / 7739
|
|
51
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
28074903
|
IBIS
|
253 / 7739
|
|
52
|
(HPO:0012704)
|
Widened subarachnoid space |
|
|
28074903
|
IBIS
|
3 / 7739
|
|
53
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
28074903
|
IBIS
|
73 / 7739
|
|
54
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
27086606
|
IBIS
|
28 / 7739
|
|
55
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
27086606
|
IBIS
|
169 / 7739
|
|
56
|
(HPO:0002007)
|
Frontal bossing |
|
|
27086606
|
IBIS
|
366 / 7739
|
|
57
|
(HPO:0011335)
|
Frontal hirsutism |
|
|
27086606
|
IBIS
|
4 / 7739
|
|
58
|
(HPO:0000534)
|
Abnormality of the eyebrow |
|
|
27086606
|
IBIS
|
39 / 7739
|
|
59
|
(HPO:0030084)
|
Clinodactyly |
|
|
27086606
|
IBIS
|
90 / 7739
|
|
60
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
8227344; 4117384; 8120281
|
IBIS
|
254 / 7739
|
|
61
|
(HPO:0011108)
|
Recurrent sinusitis |
|
|
8227344
|
IBIS
|
30 / 7739
|
|
62
|
(HPO:0002837)
|
Recurrent bronchitis |
|
|
8227344
|
IBIS
|
21 / 7739
|
|
63
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
8227344
|
IBIS
|
48 / 7739
|
|
64
|
(HPO:0002721)
|
Immunodeficiency |
|
|
8227344
|
IBIS
|
97 / 7739
|
|
65
|
(HPO:0001871)
|
Abnormality of blood and blood-forming tissues |
|
|
8227344
|
IBIS
|
37 / 7739
|
|
66
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
8227344
|
IBIS
|
51 / 7739
|
|
67
|
(MedDRA:10062200)
|
Mitogen stimulation test abnormal |
|
|
8227344
|
IBIS
|
1 / 7739
|
|
68
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
8614422
|
IBIS
|
25 / 7739
|
|
69
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
8614422
|
IBIS
|
158 / 7739
|
|
70
|
(HPO:0005401)
|
Recurrent candida infections |
|
|
8614422; 4117384; 8099155
|
IBIS
|
4 / 7739
|
|
71
|
(HPO:0010783)
|
Erythema |
|
|
8614422
|
IBIS
|
138 / 7739
|
|
72
|
(HPO:0002789)
|
Tachypnea |
|
|
8614422
|
IBIS
|
48 / 7739
|
|
73
|
(HPO:0045071)
|
Decrease in T cell number |
|
|
4117384
|
IBIS
|
2 / 7739
|
|
74
|
(HPO:0004315)
|
IgG deficiency |
|
|
4117384
|
IBIS
|
38 / 7739
|
|
75
|
(HPO:0005374)
|
Cellular immunodeficiency |
|
|
4117384
|
IBIS
|
5 / 7739
|
|
76
|
(HPO:0002719)
|
Recurrent infections |
|
|
8120281; 8099155
|
IBIS
|
107 / 7739
|
|
77
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
8120281; 9108404
|
IBIS
|
61 / 7739
|
|
78
|
(HPO:0001945)
|
Fever |
|
|
8120281
|
IBIS
|
218 / 7739
|
|
79
|
(HPO:0001824)
|
Weight loss |
|
|
8120281
|
IBIS
|
42 / 7739
|
|
80
|
(MedDRA:10061471)
|
Pseudomonas infection |
|
|
8120281
|
IBIS
|
2 / 7739
|
|
81
|
(HPO:0012735)
|
Cough |
|
|
8120281
|
IBIS
|
24 / 7739
|
|
82
|
(HPO:0011109)
|
Chronic sinusitis |
|
|
8120281
|
IBIS
|
17 / 7739
|
|
83
|
(HPO:0005407)
|
Decreased number of CD4+ T cells |
|
|
8099155
|
IBIS
|
6 / 7739
|
|
84
|
(HPO:0200043)
|
Verrucae |
|
|
8099155
|
IBIS
|
11 / 7739
|
|
85
|
(MedDRA:10074297)
|
Herpes zoster cutaneous disseminated |
|
|
8099155
|
IBIS
|
1 / 7739
|
|
86
|
(MedDRA:10001889)
|
Alveolitis |
|
|
8099155
|
IBIS
|
3 / 7739
|
|
87
|
(HPO:0004326)
|
Cachexia |
|
|
9108404
|
IBIS
|
71 / 7739
|
|
88
|
(HPO:0000976)
|
Eczematoid dermatitis |
|
|
9108404
|
IBIS
|
22 / 7739
|
|
89
|
(HPO:0002373)
|
Febrile seizures |
|
|
9108404
|
IBIS
|
37 / 7739
|
|
90
|
(HPO:0012115)
|
Hepatitis |
|
|
9108404
|
IBIS
|
24 / 7739
|
|
91
|
(HPO:0011132)
|
Chronic furunculosis |
|
|
9108404
|
IBIS
|
3 / 7739
|
|
92
|
(HPO:0001875)
|
Neutropenia |
|
|
9108404
|
IBIS
|
83 / 7739
|
|
93
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
9108404
|
IBIS
|
224 / 7739
|
|
94
|
(HPO:0005425)
|
Recurrent sinopulmonary infections |
|
|
9108404
|
IBIS
|
10 / 7739
|
|
95
|
(HPO:0001082)
|
Cholecystitis |
|
|
9108404
|
IBIS
|
9 / 7739
|
|
96
|
(HPO:0001081)
|
Cholelithiasis |
|
|
9108404
|
IBIS
|
36 / 7739
|
|
97
|
(HPO:0002105)
|
Hemoptysis |
|
|
9108404
|
IBIS
|
30 / 7739
|
|
98
|
(HPO:0005411)
|
Chronic intestinal candidiasis |
|
|
9108404
|
IBIS
|
2 / 7739
|
|
99
|
(HPO:0002301)
|
Hemiplegia |
|
|
9108404
|
IBIS
|
42 / 7739
|
|
100
|
(HPO:0006980)
|
Progressive leukoencephalopathy |
|
|
9108404
|
IBIS
|
3 / 7739
|
|
101
|
(HPO:0011110)
|
Tonsillitis |
|
|
9108404
|
IBIS
|
2 / 7739
|