|
1
|
(HPO:0002664)
|
Neoplasm |
Very frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
2
|
(HPO:0001541)
|
Ascites |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
3
|
(HPO:0100760)
|
Clubbing of toes |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
4
|
(HPO:0002015)
|
Dysphagia |
Frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0100751)
|
Esophageal neoplasm |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0007447)
|
Diffuse palmoplantar hyperkeratosis |
|
|
|
|
8 / 7739
|
|
8
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Very frequent [Orphanet]
|
|
|
|
97 / 7739
|
|
9
|
(HPO:0002250)
|
Abnormality of the large intestine |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
10
|
(HPO:0002017)
|
Nausea and vomiting |
Very frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
11
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
12
|
(HPO:0001036)
|
Parakeratosis |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0011459)
|
Esophageal carcinoma |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Buccal mucosa preleukoplakia (childhood) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Buccal mucosa leukoplakia |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Buccal mucosa shows acanthosis, parakeratosis, spongiosis without atypia |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Buccal mucosa shows markedly indented nuclei in basal cell layer, electron-dense intranuclear particles, abnormally shaped enlarged keratohyalin granules, and cytoplasmic vacuoles |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0045026)
|
Abnormality of the mediastinum |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
20
|
(HPO:0001600)
|
Abnormality of the larynx |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
21
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
22
|
(HPO:0002577)
|
Abnormality of the stomach |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|