|
1
|
(HPO:0008069)
|
Neoplasm of the skin |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
2
|
(HPO:0002571)
|
Achalasia |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
|
3
|
(HPO:0100751)
|
Esophageal neoplasm |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
|
4
|
(HPO:0100650)
|
Vaginal neoplasm |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
|
5
|
(HPO:0000989)
|
Pruritus |
Frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
6
|
(HPO:0010784)
|
Uterine neoplasm |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0009726)
|
Renal neoplasm |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
|
8
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0000131)
|
Uterine leiomyoma |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0002891)
|
Uterine leiomyosarcoma |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0003011)
|
Abnormality of the musculature |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
12
|
(HPO:0003536)
|
Decreased fumarate hydratase activity |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0006755)
|
Cutaneous leiomyosarcoma |
rare [HPO:skoehler]
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0007437)
|
Multiple cutaneous leiomyomas |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0007620)
|
Cutaneous leiomyoma |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Cutaneous piloleiomyomas (may be single or multiple) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Leiomyomas are sensitive to light touch |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
20
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
21
|
(HPO:0005584)
|
Renal cell carcinoma |
|
|
|
|
13 / 7739
|