1
|
(HPO:0004378)
|
Abnormality of the anus |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
2
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
3
|
(HPO:0100582)
|
Nasal polyposis |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
4
|
(HPO:0005244)
|
Gastrointestinal infarctions |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
5
|
(HPO:0010788)
|
Testicular neoplasm |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
6
|
(HPO:0100526)
|
Neoplasm of the lung |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
7
|
(HPO:0100615)
|
Ovarian neoplasm |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
8
|
(HPO:0100751)
|
Esophageal neoplasm |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
9
|
(HPO:0005214)
|
Intestinal obstruction |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
10
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Frequent [Orphanet]
|
|
|
|
97 / 7739
|
11
|
(HPO:0002584)
|
Intestinal bleeding |
|
|
|
|
16 / 7739
|
12
|
(HPO:0010784)
|
Uterine neoplasm |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
13
|
(HPO:0001820)
|
Leukonychia |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
14
|
(HPO:0006753)
|
Neoplasm of the stomach |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
15
|
(HPO:0002027)
|
Abdominal pain |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
16
|
(HPO:0007378)
|
Neoplasm of the gastrointestinal tract |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
17
|
(HPO:0100273)
|
Neoplasm of the colon |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
18
|
(HPO:0100743)
|
Neoplasm of the rectum |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
19
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
20
|
(HPO:0002894)
|
Neoplasm of the pancreas |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
21
|
(HPO:0002017)
|
Nausea and vomiting |
Occasional [Orphanet]
|
|
|
|
134 / 7739
|
22
|
(HPO:0009726)
|
Renal neoplasm |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
23
|
(HPO:0003002)
|
Breast carcinoma |
|
|
|
|
23 / 7739
|
24
|
(HPO:0100013)
|
Neoplasm of the breast |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
25
|
(HPO:0000069)
|
Abnormality of the ureter |
|
|
|
|
47 / 7739
|
26
|
(HPO:0000138)
|
Ovarian cyst |
|
|
|
|
25 / 7739
|
27
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
28
|
(HPO:0000771)
|
Gynecomastia |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
29
|
(HPO:0001080)
|
Biliary tract abnormality |
|
|
|
|
26 / 7739
|
30
|
(HPO:0001891)
|
Iron deficiency anemia |
|
|
|
|
22 / 7739
|
31
|
(HPO:0002035)
|
Rectal prolapse |
|
|
|
|
11 / 7739
|
32
|
(HPO:0002576)
|
Intussusception |
|
|
|
|
10 / 7739
|
33
|
(HPO:0002672)
|
Gastrointestinal carcinoma |
|
|
|
|
3 / 7739
|
34
|
(HPO:0004390)
|
Hamartomatous polyposis |
|
|
|
|
9 / 7739
|
35
|
(HPO:0008204)
|
Precocious puberty with Sertoli cell tumor |
|
|
|
|
1 / 7739
|
36
|
(HPO:0100669)
|
Abnormal pigmentation of the oral mucosa |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
37
|
(HPO:0100759)
|
Clubbing of fingers |
|
|
|
|
40 / 7739
|
38
|
(HPO:0100833)
|
Neoplasm of the small intestine |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
39
|
(OMIM)
|
Hyperpigmented macules of lips |
|
|
|
|
1 / 7739
|
40
|
(OMIM)
|
Hyperpigmented macules of buccal mucosa |
|
|
|
|
1 / 7739
|
41
|
(MedDRA:10057346)
|
Bronchial polyp |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Gynecomastia with Sertoli cell tumors |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Biliary tract polyps |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Recurrent colicky abdominal pain |
|
|
|
|
1 / 7739
|
45
|
(MedDRA:10051506)
|
Ureteral polyp |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Bladder polyps |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Hyperpigmented spots on hands (especially palms), arms, feet (especially plantar areas), legs, and lips |
|
|
|
|
1 / 7739
|
48
|
(MedDRA:10066474)
|
Thyroid cancer |
|
|
|
|
6 / 7739
|
49
|
(OMIM)
|
Lung |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Sertoli cell testicular tumors |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Ovarian sex cord tumors |
|
|
|
|
1 / 7739
|
52
|
(HPO:0100816)
|
Lip hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
1 / 7739
|
53
|
(HPO:0010786)
|
Urinary tract neoplasm |
Occasional [Orphanet]
|
|
|
|
7 / 7739
|
54
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
55
|
(HPO:0012288)
|
Neoplasm of head and neck |
Occasional [Orphanet]
|
|
|
|
1 / 7739
|
56
|
(HPO:0200008)
|
Intestinal polyposis |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
57
|
(HPO:0100575)
|
Neoplasm of the gallbladder |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
58
|
(MedDRA:10025421)
|
Macule |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
59
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
60
|
(HPO:0001034)
|
Hypermelanotic macule |
|
|
|
|
22 / 7739
|