1
|
(HPO:0001012)
|
Multiple lipomas |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
2
|
(HPO:0007378)
|
Neoplasm of the gastrointestinal tract |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
3
|
(HPO:0100733)
|
Neoplasm of the parathyroid gland |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
4
|
(HPO:0010609)
|
Skin tags |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
5
|
(HPO:0002097)
|
Emphysema |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
6
|
(HPO:0009726)
|
Renal neoplasm |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
7
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
8
|
(HPO:0100684)
|
Salivary gland neoplasm |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
9
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
10
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
11
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
12
|
(HPO:0002108)
|
Spontaneous pneumothorax |
|
|
|
|
3 / 7739
|
13
|
(HPO:0005584)
|
Renal cell carcinoma |
|
|
|
|
13 / 7739
|
14
|
(HPO:0100031)
|
Neoplasm of the thyroid gland |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
15
|
(OMIM)
|
Facial papules |
|
|
|
|
1 / 7739
|
16
|
(MedDRA:10068749)
|
Lung cyst |
|
|
|
|
3 / 7739
|
17
|
(OMIM)
|
Bullous disease |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Colonic polyps |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Colorectal adenomas |
|
|
|
|
3 / 7739
|
20
|
(OMIM)
|
Fibrofolliculomas |
|
|
|
|
1 / 7739
|
21
|
(MedDRA:10000591)
|
Acrochordon |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Trichodiscomas (tumor of the hair disc) |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Parotid oncocytomas |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Neural tissue tumors |
|
|
|
|
1 / 7739
|
25
|
(MedDRA:10048945)
|
Angiolipoma |
|
|
|
|
1 / 7739
|
26
|
(HPO:0030350)
|
Erythematous papule |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
27
|
(HPO:0002088)
|
Abnormality of lung morphology |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
28
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
29
|
(HPO:0030436)
|
Fibrofolliculoma |
|
|
|
|
1 / 7739
|