1
|
(HPO:0011869)
|
Abnormal platelet function |
Very frequent [IBIS]
|
|
25117010
|
IBIS
|
12 / 7739
|
2
|
(HPO:0000421)
|
Epistaxis |
Frequent [IBIS]
Frequent [Orphanet]
|
|
25117010; 24179932
|
IBIS
|
85 / 7739
|
3
|
(HPO:0000639)
|
Nystagmus |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
25117010
|
IBIS
|
555 / 7739
|
4
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [IBIS]
Frequent [Orphanet]
|
|
24179932
|
IBIS
|
123 / 7739
|
5
|
(HPO:0001107)
|
Ocular albinism |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
25117010
|
IBIS
|
40 / 7739
|
6
|
(HPO:0002206)
|
Pulmonary fibrosis |
Frequent [IBIS]
Frequent [Orphanet]
|
|
25117010
|
IBIS
|
51 / 7739
|
7
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
25117010
|
IBIS
|
46 / 7739
|
8
|
(HPO:0001022)
|
Albinism |
Frequent [IBIS]
Frequent [Orphanet]
|
|
25117010
|
IBIS
|
43 / 7739
|
9
|
(HPO:0000496)
|
Abnormality of eye movement |
Frequent [IBIS]
Frequent [Orphanet]
|
|
25117010
|
IBIS
|
79 / 7739
|
10
|
(HPO:0003010)
|
Prolonged bleeding time |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
25447654
|
IBIS
|
88 / 7739
|
11
|
(HPO:0001892)
|
Abnormal bleeding |
Frequent [IBIS]
|
|
25117010
|
IBIS
|
85 / 7739
|
12
|
(HPO:0002583)
|
Colitis |
Frequent [IBIS]
|
|
25117010
|
IBIS
|
9 / 7739
|
13
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [IBIS]
Occasional [Orphanet]
|
|
24179932
|
IBIS
|
192 / 7739
|
14
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
|
|
232 / 7739
|
15
|
(HPO:0000483)
|
Astigmatism |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
16
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
17
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
18
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
19
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
20
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
21
|
(HPO:0000613)
|
Photophobia |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
22
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
23
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
24
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
25
|
(HPO:0000995)
|
Melanocytic nevus |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
26
|
(HPO:0001872)
|
Abnormality of thrombocytes |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
27
|
(HPO:0001874)
|
Abnormality of neutrophils |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
28
|
(HPO:0002024)
|
Malabsorption |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
29
|
(HPO:0002027)
|
Abdominal pain |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
30
|
(HPO:0002037)
|
Inflammation of the large intestine |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
31
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
32
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
33
|
(HPO:0005599)
|
Hypopigmentation of hair |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
34
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
35
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
36
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
25117010
|
IBIS
|
272 / 7739
|
37
|
(HPO:0008002)
|
Abnormality of macular pigmentation |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
38
|
(HPO:0001072)
|
Thickened skin |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
39
|
(HPO:0002250)
|
Abnormality of the large intestine |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
40
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
41
|
(HPO:0001324)
|
Muscle weakness |
Occasional [Orphanet]
|
|
|
|
859 / 7739
|
42
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
43
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
44
|
(HPO:0000858)
|
Menstrual irregularities |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
45
|
(HPO:0001875)
|
Neutropenia |
|
|
25117010
|
IBIS
|
83 / 7739
|
46
|
(HPO:0002721)
|
Immunodeficiency |
|
|
25117010
|
IBIS
|
97 / 7739
|
47
|
(HPO:0011813)
|
Increased cerebral lipofuscin |
|
|
25117010
|
IBIS
|
4 / 7739
|
48
|
(HPO:0000072)
|
Hydroureter |
|
|
25117010
|
IBIS
|
146 / 7739
|
49
|
(HPO:0030138)
|
Excessive bleeding from superficial cuts |
|
|
25117010
|
IBIS
|
1 / 7739
|
50
|
(HPO:0000646)
|
Amblyopia |
|
|
25447654
|
IBIS
|
42 / 7739
|
51
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
25447654
|
IBIS
|
29 / 7739
|
52
|
(HPO:0012735)
|
Cough |
|
|
25447654
|
IBIS
|
24 / 7739
|
53
|
(HPO:0002094)
|
Dyspnea |
|
|
24179932
|
IBIS
|
132 / 7739
|
54
|
(HPO:0040186)
|
Maculopapular exanthema |
|
|
24179932
|
IBIS
|
2 / 7739
|
55
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
24179932
|
IBIS
|
100 / 7739
|
56
|
(HPO:0000132)
|
Menorrhagia |
|
|
24179932
|
IBIS
|
40 / 7739
|