1
|
(HPO:0007378)
|
Neoplasm of the gastrointestinal tract |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
2
|
(HPO:0100723)
|
Gastrointestinal stroma tumor |
|
|
|
|
7 / 7739
|
3
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
4
|
(HPO:0100242)
|
Sarcoma |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
5
|
(HPO:0100273)
|
Neoplasm of the colon |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
6
|
(HPO:0100743)
|
Neoplasm of the rectum |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
7
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
8
|
(HPO:0100751)
|
Esophageal neoplasm |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
9
|
(HPO:0005214)
|
Intestinal obstruction |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
10
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Frequent [Orphanet]
|
|
|
|
97 / 7739
|
11
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
12
|
(HPO:0000988)
|
Skin rash |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
13
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
14
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
15
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
16
|
(HPO:0006753)
|
Neoplasm of the stomach |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
17
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
|
|
75 / 7739
|
18
|
(HPO:0001025)
|
Urticaria |
|
|
|
|
73 / 7739
|
19
|
(HPO:0001067)
|
Neurofibromas |
|
|
|
|
7 / 7739
|
20
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
21
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
22
|
(HPO:0001230)
|
Broad metacarpals |
|
|
|
|
17 / 7739
|
23
|
(HPO:0100833)
|
Neoplasm of the small intestine |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
24
|
(OMIM)
|
Pathology resembles neurofibromas |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Hyperplasia of the myenteric plexus |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Hyperpigmentation |
|
|
|
|
24 / 7739
|
27
|
(OMIM)
|
Urticaria pigmentosa or cutaneous mastocytosis (in patients with KIT mutations) |
|
|
|
|
1 / 7739
|
28
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
29
|
(HPO:0002242)
|
Abnormality of the intestine |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
31
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|