|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000670)
|
Carious teeth |
occasional [HPO]
|
|
|
|
145 / 7739
|
|
3
|
(HPO:0000706)
|
Unerupted tooth |
occasional [HPO]
|
|
|
|
10 / 7739
|
|
4
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0001012)
|
Multiple lipomas |
|
|
|
|
43 / 7739
|
|
6
|
(HPO:0002884)
|
Hepatoblastoma |
1.6% [HPO]
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0002885)
|
Medulloblastoma |
1% [HPO]
|
|
|
|
20 / 7739
|
|
8
|
(HPO:0002895)
|
Papillary thyroid carcinoma |
1-2% [HPO]
|
|
|
|
10 / 7739
|
|
9
|
(HPO:0003003)
|
Colon cancer |
frequent [HPO]
|
|
|
|
20 / 7739
|
|
10
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
11
|
(HPO:0004394)
|
Multiple gastric polyps |
frequent [HPO]
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0004783)
|
Duodenal polyposis |
50%-90% [HPO]
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0005227)
|
Adenomatous colonic polyposis |
hallmark [HPO]
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0006722)
|
Small intestine carcinoid |
|
|
|
|
5 / 7739
|
|
15
|
(HPO:0006744)
|
Adrenocortical carcinoma |
|
|
|
|
10 / 7739
|
|
16
|
(HPO:0006771)
|
Duodenal adenocarcinoma |
4-12% [HPO]
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0007649)
|
Congenital hypertrophy of retinal pigment epithelium |
occasional [HPO]
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0008256)
|
Adrenocortical adenoma |
13% [HPO]
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0009592)
|
Astrocytoma |
|
|
|
|
15 / 7739
|
|
20
|
(HPO:0010562)
|
Keloids |
|
|
|
|
11 / 7739
|
|
21
|
(HPO:0010619)
|
Fibroadenoma of the breast |
occasional [HPO]
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0011068)
|
Odontoma |
|
|
|
|
6 / 7739
|
|
23
|
(HPO:0011069)
|
Increased number of teeth |
occasional [HPO]
|
|
|
|
39 / 7739
|
|
24
|
(HPO:0100245)
|
Desmoid tumors |
10% [HPO]
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0100246)
|
Osteoma |
occasional [HPO]
|
|
|
|
5 / 7739
|
|
26
|
(HPO:0200040)
|
Epidermoid cyst |
occasional [HPO]
|
|
|
|
35 / 7739
|