1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0008069)
|
Neoplasm of the skin |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
3
|
(HPO:0200040)
|
Epidermoid cyst |
frequent [HPO]
|
|
|
|
35 / 7739
|
4
|
(HPO:0002024)
|
Malabsorption |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
5
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
6
|
(HPO:0100806)
|
Sepsis |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
7
|
(HPO:0002027)
|
Abdominal pain |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
8
|
(HPO:0003326)
|
Myalgia |
Frequent [Orphanet]
|
|
|
|
143 / 7739
|
9
|
(HPO:0004298)
|
Abnormality of the abdominal wall |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
10
|
(HPO:0005059)
|
Arthralgia/arthritis |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
11
|
(HPO:0200008)
|
Intestinal polyposis |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
12
|
(HPO:0005214)
|
Intestinal obstruction |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
13
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
14
|
(HPO:0002797)
|
Osteolysis |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
15
|
(HPO:0100749)
|
Chest pain |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
16
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
17
|
(HPO:0003003)
|
Colon cancer |
rare [HPO]
|
|
1078292
|
IBIS
|
20 / 7739
|
18
|
(HPO:0100245)
|
Desmoid tumors |
hallmark [HPO]
|
|
|
|
6 / 7739
|
19
|
(OMIM)
|
Predisposed to desmoid tumor |
|
|
|
|
1 / 7739
|
20
|
(OMIM)
|
? Predisposed to colon cancer |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Infiltrative fibromatosis of mesentery |
|
|
|
|
1 / 7739
|
22
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
23
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
24
|
(HPO:0030448)
|
Soft tissue sarcoma |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
25
|
(HPO:0030426)
|
Ossifying fibroma |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
26
|
(HPO:0003011)
|
Abnormality of the musculature |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
27
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
28
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|