|
1
|
(HPO:0000488)
|
Retinopathy |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0000958)
|
Dry skin |
Frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
3
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
|
4
|
(HPO:0002861)
|
Melanoma |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0002894)
|
Neoplasm of the pancreas |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0006753)
|
Neoplasm of the stomach |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0100013)
|
Neoplasm of the breast |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
8
|
(HPO:0100763)
|
Abnormality of the lymphatic system |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
9
|
(HPO:0007587)
|
Numerous pigmented freckles |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
10
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
11
|
(HPO:0001052)
|
Nevus flammeus |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
12
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
13
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
14
|
(HPO:0001054)
|
Numerous nevi |
|
|
|
|
8 / 7739
|
|
15
|
(HPO:0001062)
|
Atypical nevus |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0001074)
|
Atypical nevi in non-sun exposed areas |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0007716)
|
Intraocular melanoma |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0012056)
|
Cutaneous melanoma |
|
|
|
|
10 / 7739
|