|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000225)
|
Gingival bleeding |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0000421)
|
Epistaxis |
|
|
|
|
85 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
6
|
(HPO:0000995)
|
Melanocytic nevus |
|
|
|
|
63 / 7739
|
|
7
|
(HPO:0001022)
|
Albinism |
|
|
|
|
43 / 7739
|
|
8
|
(HPO:0001107)
|
Ocular albinism |
|
|
|
|
40 / 7739
|
|
9
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
10
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
|
11
|
(HPO:0002037)
|
Inflammation of the large intestine |
|
|
|
|
25 / 7739
|
|
12
|
(HPO:0002091)
|
Restrictive ventilatory defect |
|
|
|
|
46 / 7739
|
|
13
|
(HPO:0002573)
|
Hematochezia |
|
|
|
|
18 / 7739
|
|
14
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
15
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
|
|
88 / 7739
|
|
16
|
(HPO:0007603)
|
Freckles in sun-exposed areas |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Lifelong reduced visual acuity, legal blindness to low vision |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Iris transillumination |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Macular translucency (variable) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Iris color blue to brown |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0006530)
|
Interstitial pulmonary disease |
|
|
|
|
26 / 7739
|
|
22
|
(OMIM)
|
Granulomatous colitis |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Creamy white skin |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Tanning possible |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Hair color white to brown |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Absent dense bodies in platelets |
|
|
|
|
1 / 7739
|
|
27
|
(MedDRA:10035530)
|
Platelet count normal |
|
|
|
|
9 / 7739
|
|
28
|
(OMIM)
|
Normal prothrombin and partial chromoplastin times |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Pigmented reticuloendothelial cells |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Hair bulb tyrosinase present |
|
|
|
|
3 / 7739
|