|
1
|
(HPO:0002206)
|
Pulmonary fibrosis |
Very frequent [IBIS]
|
|
25728501
|
IBIS
|
51 / 7739
|
|
2
|
(HPO:0011869)
|
Abnormal platelet function |
Very frequent [IBIS]
|
|
25728501
|
IBIS
|
12 / 7739
|
|
3
|
(HPO:0001022)
|
Albinism |
Frequent [IBIS]
|
|
25447654
|
IBIS
|
43 / 7739
|
|
4
|
(HPO:0001107)
|
Ocular albinism |
Frequent [IBIS]
|
|
25447654
|
IBIS
|
40 / 7739
|
|
5
|
(HPO:0001010)
|
Hypopigmentation of the skin |
Frequent [IBIS]
|
|
25447654
|
IBIS
|
46 / 7739
|
|
6
|
(HPO:0001892)
|
Abnormal bleeding |
Frequent [IBIS]
|
|
25447654
|
IBIS
|
85 / 7739
|
|
7
|
(HPO:0011813)
|
Increased cerebral lipofuscin |
Frequent [IBIS]
|
|
25447654
|
IBIS
|
4 / 7739
|
|
8
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
9
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
10
|
(HPO:0000225)
|
Gingival bleeding |
|
|
|
|
28 / 7739
|
|
11
|
(HPO:0000421)
|
Epistaxis |
|
|
|
|
85 / 7739
|
|
12
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
13
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
14
|
(HPO:0000995)
|
Melanocytic nevus |
|
|
|
|
63 / 7739
|
|
15
|
(HPO:0001141)
|
Severe visual impairment |
|
|
|
|
11 / 7739
|
|
16
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
17
|
(HPO:0001480)
|
Freckling |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
19
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
20
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
|
21
|
(HPO:0002037)
|
Inflammation of the large intestine |
|
|
|
|
25 / 7739
|
|
22
|
(HPO:0002091)
|
Restrictive ventilatory defect |
|
|
|
|
46 / 7739
|
|
23
|
(HPO:0002573)
|
Hematochezia |
|
|
|
|
18 / 7739
|
|
24
|
(HPO:0003010)
|
Prolonged bleeding time |
|
|
25447654
|
IBIS
|
88 / 7739
|
|
25
|
(HPO:0007603)
|
Freckles in sun-exposed areas |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0002878)
|
Respiratory failure |
|
|
25447654
|
IBIS
|
57 / 7739
|
|
27
|
(HPO:0000646)
|
Amblyopia |
|
|
25447654
|
IBIS
|
42 / 7739
|
|
28
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
25447654
|
IBIS
|
29 / 7739
|
|
29
|
(HPO:0012735)
|
Cough |
|
|
25447654
|
IBIS
|
24 / 7739
|
|
30
|
(HPO:0002111)
|
Restrictive deficit on pulmonary function testing |
|
|
25447654
|
IBIS
|
25 / 7739
|
|
31
|
(HPO:0045051)
|
Decreased DLCO |
|
|
25447654
|
IBIS
|
1 / 7739
|
|
32
|
(HPO:0002792)
|
Reduced vital capacity |
|
|
25447654
|
IBIS
|
17 / 7739
|
|
33
|
(HPO:0002110)
|
Bronchiectasis |
|
|
25447654
|
IBIS
|
73 / 7739
|
|
34
|
(HPO:0006530)
|
Interstitial pulmonary disease |
|
|
25447654
|
IBIS
|
26 / 7739
|
|
35
|
(HPO:0012418)
|
Hypoxemia |
|
|
25379352
|
IBIS
|
18 / 7739
|
|
36
|
(HPO:0005952)
|
Decreased pulmonary function |
|
|
25379352
|
IBIS
|
8 / 7739
|
|
37
|
(HPO:0002094)
|
Dyspnea |
|
|
25379352
|
IBIS
|
132 / 7739
|